Canonical Allele Identifier: CA397726121

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128341C>A (hg19) ; chr17:g.7225022C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225022C>A , CM000679.2:g.7225022C>A	GRCh38
NC_000017.10:g.7128341C>A , CM000679.1:g.7128341C>A	GRCh37
NC_000017.9:g.7069065C>A	NCBI36
NG_007975.1:g.10189C>A
NG_008391.2:g.29G>T
NG_033038.1:g.14523G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1893C>A MANE Select	ENSP00000349297.5:p.Tyr631Ter
ENST00000322910.9:c.*1848C>A	ENSP00000325395.5:n.*1848C>A
ENST00000350303.9:c.1827C>A	ENSP00000344152.5:p.Tyr609Ter
ENST00000356839.9:c.1893C>A	ENSP00000349297.5:p.Tyr631Ter
ENST00000542255.6:c.772C>A
ENST00000543245.6:c.1962C>A	ENSP00000438689.2:p.Tyr654Ter
ENST00000578033.1:n.318C>A
ENST00000578319.5:n.474C>A
ENST00000578711.1:n.1518C>A
ENST00000578809.5:n.465C>A
ENST00000579425.5:n.1009C>A
ENST00000583848.5:c.259C>A	ENSP00000466487.1:n.259C>A
ENST00000583850.5:n.664C>A
ENST00000583858.5:c.824C>A
NM_000018.3:c.1893C>A	NP_000009.1:p.Tyr631Ter
NM_001033859.2:c.1827C>A	NP_001029031.1:p.Tyr609Ter
NM_001270447.1:c.1962C>A	NP_001257376.1:p.Tyr654Ter
NM_001270448.1:c.1665C>A	NP_001257377.1:p.Tyr555Ter
XM_006721516.2:c.1914C>A	XP_006721579.2:p.Tyr638Ter
XM_011523829.1:c.1812C>A	XP_011522131.1:p.Tyr604Ter
XM_011523830.1:c.1791C>A	XP_011522132.1:p.Tyr597Ter
XR_934021.1:n.1996C>A
XR_934022.1:n.1902C>A
XR_934023.1:n.1923C>A
XM_006721516.3:c.1914C>A	XP_006721579.2:p.Tyr638Ter
XM_011523829.2:c.1812C>A	XP_011522131.1:p.Tyr604Ter
XM_011523830.2:c.1791C>A	XP_011522132.1:p.Tyr597Ter
XM_024450741.1:c.1881C>A	XP_024306509.1:p.Tyr627Ter
XR_934021.2:n.1948C>A
XR_934022.2:n.1854C>A
XR_934023.2:n.1875C>A
NM_000018.4:c.1893C>A MANE Select	NP_000009.1:p.Tyr631Ter
NM_001033859.3:c.1827C>A	NP_001029031.1:p.Tyr609Ter
NM_001270447.2:c.1962C>A	NP_001257376.1:p.Tyr654Ter
NM_001270448.2:c.1665C>A	NP_001257377.1:p.Tyr555Ter