Canonical Allele Identifier: CA397723359
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125282G>T (hg19) chr17:g.7221963G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221963G>T , CM000679.2:g.7221963G>T GRCh38
NC_000017.10:g.7125282G>T , CM000679.1:g.7125282G>T GRCh37
NC_000017.9:g.7066006G>T NCBI36
NG_007975.1:g.7130G>T
NG_008391.2:g.3088C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.634G>T MANE Select ENSP00000349297.5:p.Ala212Ser
ENST00000322910.9:c.*589G>T ENSP00000325395.5:n.*589G>T
ENST00000350303.9:c.568G>T ENSP00000344152.5:p.Ala190Ser
ENST00000356839.9:c.634G>T ENSP00000349297.5:p.Ala212Ser
ENST00000543245.6:c.703G>T ENSP00000438689.2:p.Ala235Ser
ENST00000577191.5:n.711G>T
ENST00000577857.5:n.450G>T
ENST00000579286.5:n.815G>T
ENST00000580365.1:n.365G>T
ENST00000581378.5:c.352G>T
ENST00000581562.5:n.536G>T
ENST00000582379.1:n.18G>T
ENST00000583312.5:c.649G>T ENSP00000467920.1:p.Ala217Ser
ENST00000583760.1:n.416G>T
NM_000018.3:c.634G>T NP_000009.1:p.Ala212Ser
NM_001033859.2:c.568G>T NP_001029031.1:p.Ala190Ser
NM_001270447.1:c.703G>T NP_001257376.1:p.Ala235Ser
NM_001270448.1:c.406G>T NP_001257377.1:p.Ala136Ser
XM_006721516.2:c.634G>T XP_006721579.2:p.Ala212Ser
XM_011523829.1:c.634G>T XP_011522131.1:p.Ala212Ser
XM_011523830.1:c.634G>T XP_011522132.1:p.Ala212Ser
XR_934021.1:n.741G>T
XR_934022.1:n.741G>T
XR_934023.1:n.741G>T
XM_006721516.3:c.634G>T XP_006721579.2:p.Ala212Ser
XM_011523829.2:c.634G>T XP_011522131.1:p.Ala212Ser
XM_011523830.2:c.634G>T XP_011522132.1:p.Ala212Ser
XM_024450741.1:c.634G>T XP_024306509.1:p.Ala212Ser
XR_934021.2:n.693G>T
XR_934022.2:n.693G>T
XR_934023.2:n.693G>T
NM_000018.4:c.634G>T MANE Select NP_000009.1:p.Ala212Ser
NM_001033859.3:c.568G>T NP_001029031.1:p.Ala190Ser
NM_001270447.2:c.703G>T NP_001257376.1:p.Ala235Ser
NM_001270448.2:c.406G>T NP_001257377.1:p.Ala136Ser
Search 100 bp 5'
Search 100 bp 3'