Canonical Allele Identifier: CA397724214
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126143G>C (hg19) chr17:g.7222824G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222824G>C , CM000679.2:g.7222824G>C GRCh38
NC_000017.10:g.7126143G>C , CM000679.1:g.7126143G>C GRCh37
NC_000017.9:g.7066867G>C NCBI36
NG_007975.1:g.7991G>C
NG_008391.2:g.2227C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1036G>C MANE Select ENSP00000349297.5:p.Ala346Pro
ENST00000322910.9:c.*991G>C ENSP00000325395.5:n.*991G>C
ENST00000350303.9:c.970G>C ENSP00000344152.5:p.Ala324Pro
ENST00000356839.9:c.1036G>C ENSP00000349297.5:p.Ala346Pro
ENST00000543245.6:c.1105G>C ENSP00000438689.2:p.Ala369Pro
ENST00000578824.5:n.185G>C
ENST00000582379.1:n.420G>C
ENST00000583858.5:c.65G>C
NM_000018.3:c.1036G>C NP_000009.1:p.Ala346Pro
NM_001033859.2:c.970G>C NP_001029031.1:p.Ala324Pro
NM_001270447.1:c.1105G>C NP_001257376.1:p.Ala369Pro
NM_001270448.1:c.808G>C NP_001257377.1:p.Ala270Pro
XM_006721516.2:c.1036G>C XP_006721579.2:p.Ala346Pro
XM_011523829.1:c.1036G>C XP_011522131.1:p.Ala346Pro
XM_011523830.1:c.1036G>C XP_011522132.1:p.Ala346Pro
XR_934021.1:n.1143G>C
XR_934022.1:n.1143G>C
XR_934023.1:n.1143G>C
XM_006721516.3:c.1036G>C XP_006721579.2:p.Ala346Pro
XM_011523829.2:c.1036G>C XP_011522131.1:p.Ala346Pro
XM_011523830.2:c.1036G>C XP_011522132.1:p.Ala346Pro
XM_024450741.1:c.1036G>C XP_024306509.1:p.Ala346Pro
XR_934021.2:n.1095G>C
XR_934022.2:n.1095G>C
XR_934023.2:n.1095G>C
NM_000018.4:c.1036G>C MANE Select NP_000009.1:p.Ala346Pro
NM_001033859.3:c.970G>C NP_001029031.1:p.Ala324Pro
NM_001270447.2:c.1105G>C NP_001257376.1:p.Ala369Pro
NM_001270448.2:c.808G>C NP_001257377.1:p.Ala270Pro
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