Canonical Allele Identifier: CA497694103
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127004C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223685C>G , CM000679.2:g.7223685C>G GRCh38
NC_000017.10:g.7127004C>G , CM000679.1:g.7127004C>G GRCh37
NC_000017.9:g.7067728C>G NCBI36
NG_007975.1:g.8852C>G
NG_008391.2:g.1366G>C
NG_033038.1:g.15860G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1224C>G MANE Select ENSP00000349297.5:p.Ala408=
ENST00000322910.9:c.*1179C>G ENSP00000325395.5:n.*1179C>G
ENST00000350303.9:c.1158C>G ENSP00000344152.5:p.Ala386=
ENST00000356839.9:c.1224C>G ENSP00000349297.5:p.Ala408=
ENST00000542255.6:c.82C>G
ENST00000543245.6:c.1293C>G ENSP00000438689.2:p.Ala431=
ENST00000578579.2:n.395C>G
ENST00000578711.1:n.181C>G
ENST00000578824.5:n.640C>G
ENST00000579425.5:n.248C>G
ENST00000579546.1:c.61C>G
ENST00000583858.5:c.253C>G
ENST00000585203.6:n.432C>G
NM_000018.3:c.1224C>G NP_000009.1:p.Ala408=
NM_001033859.2:c.1158C>G NP_001029031.1:p.Ala386=
NM_001270447.1:c.1293C>G NP_001257376.1:p.Ala431=
NM_001270448.1:c.996C>G NP_001257377.1:p.Ala332=
XM_006721516.2:c.1224C>G XP_006721579.2:p.Ala408=
XM_011523829.1:c.1224C>G XP_011522131.1:p.Ala408=
XM_011523830.1:c.1224C>G XP_011522132.1:p.Ala408=
XR_934021.1:n.1331C>G
XR_934022.1:n.1331C>G
XR_934023.1:n.1331C>G
XM_006721516.3:c.1224C>G XP_006721579.2:p.Ala408=
XM_011523829.2:c.1224C>G XP_011522131.1:p.Ala408=
XM_011523830.2:c.1224C>G XP_011522132.1:p.Ala408=
XM_024450741.1:c.1224C>G XP_024306509.1:p.Ala408=
XR_934021.2:n.1283C>G
XR_934022.2:n.1283C>G
XR_934023.2:n.1283C>G
NM_000018.4:c.1224C>G MANE Select NP_000009.1:p.Ala408=
NM_001033859.3:c.1158C>G NP_001029031.1:p.Ala386=
NM_001270447.2:c.1293C>G NP_001257376.1:p.Ala431=
NM_001270448.2:c.996C>G NP_001257377.1:p.Ala332=
Search 100 bp 5'
Search 100 bp 3'