Canonical Allele Identifier: CA130581
Gene: AKT3 HGNC NCBI

Linked Data

ClinVar Variation Id: 39815
ClinVar RCV Id: RCV000033036 RCV000416600
dbSNP Id: rs397514605
MyVariant Identifiers: chr1:g.243776983T>C (hg19) chr1:g.243613681T>C (hg38)
PubMed: PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:27854409 PMID:28086757
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.243613681T>C , CM000663.2:g.243613681T>C GRCh38
NC_000001.10:g.243776983T>C , CM000663.1:g.243776983T>C GRCh37
NC_000001.9:g.241843606T>C NCBI36
NG_029764.1:g.234904A>G
NG_029764.2:g.242399A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263826.12:c.686A>G ENSP00000263826.5:p.Asn229Ser
ENST00000366539.6:c.627+1415A>G ENSP00000355497.2:n.627+1415A>G
ENST00000492957.2:c.686A>G ENSP00000506695.1:p.Asn229Ser
ENST00000672460.1:c.443A>G ENSP00000499842.1:p.Asn148Ser
ENST00000672578.1:c.503A>G ENSP00000500597.1:p.Asn168Ser
ENST00000673466.1:c.686A>G MANE Select ENSP00000500582.1:p.Asn229Ser
ENST00000680056.1:c.560A>G ENSP00000505337.1:p.Asn187Ser
ENST00000680118.1:c.686A>G ENSP00000505276.1:p.Asn229Ser
ENST00000681794.1:c.686A>G ENSP00000506399.1:p.Asn229Ser
ENST00000263826.9:c.686A>G ENSP00000263826.5:p.Asn229Ser
ENST00000336199.9:c.686A>G ENSP00000336943.5:p.Asn229Ser
ENST00000366539.5:c.686A>G ENSP00000355497.1:p.Asn229Ser
ENST00000366540.5:c.686A>G ENSP00000355498.1:p.Asn229Ser
ENST00000492957.1:n.110A>G
NM_001206729.1:c.686A>G NP_001193658.1:p.Asn229Ser
NM_005465.4:c.686A>G NP_005456.1:p.Asn229Ser
NM_181690.2:c.686A>G NP_859029.1:p.Asn229Ser
XM_005272994.3:c.686A>G XP_005273051.1:p.Asn229Ser
XM_005272995.2:c.686A>G XP_005273052.1:p.Asn229Ser
XM_005272997.3:c.503A>G XP_005273054.1:p.Asn168Ser
XM_006711726.2:c.686A>G XP_006711789.1:p.Asn229Ser
XM_011544011.1:c.560A>G XP_011542313.1:p.Asn187Ser
XM_011544012.1:c.686A>G XP_011542314.1:p.Asn229Ser
XM_011544013.1:c.686A>G XP_011542315.1:p.Asn229Ser
XM_016999985.1:c.503A>G XP_016855474.1:p.Asn168Ser
XM_024446000.1:c.686A>G XP_024301768.1:p.Asn229Ser
XM_024446892.1:c.686A>G XP_024302660.1:p.Asn229Ser
XM_024447938.1:c.686A>G XP_024303706.1:p.Asn229Ser
NM_005465.5:c.686A>G NP_005456.1:p.Asn229Ser
NM_001370074.1:c.686A>G NP_001357003.1:p.Asn229Ser
NM_005465.7:c.686A>G MANE Select NP_005456.1:p.Asn229Ser
NM_001206729.2:c.686A>G NP_001193658.1:p.Asn229Ser
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