Canonical Allele Identifier: CA397726115

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128339T>G (hg19) ; chr17:g.7225020T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225020T>G , CM000679.2:g.7225020T>G	GRCh38
NC_000017.10:g.7128339T>G , CM000679.1:g.7128339T>G	GRCh37
NC_000017.9:g.7069063T>G	NCBI36
NG_007975.1:g.10187T>G
NG_008391.2:g.31A>C
NG_033038.1:g.14525A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1891T>G MANE Select	ENSP00000349297.5:p.Tyr631Asp
ENST00000322910.9:c.*1846T>G	ENSP00000325395.5:n.*1846T>G
ENST00000350303.9:c.1825T>G	ENSP00000344152.5:p.Tyr609Asp
ENST00000356839.9:c.1891T>G	ENSP00000349297.5:p.Tyr631Asp
ENST00000542255.6:c.770T>G
ENST00000543245.6:c.1960T>G	ENSP00000438689.2:p.Tyr654Asp
ENST00000578033.1:n.316T>G
ENST00000578319.5:n.472T>G
ENST00000578711.1:n.1516T>G
ENST00000578809.5:n.463T>G
ENST00000579425.5:n.1007T>G
ENST00000583848.5:c.257T>G	ENSP00000466487.1:n.257T>G
ENST00000583850.5:n.662T>G
ENST00000583858.5:c.822T>G
NM_000018.3:c.1891T>G	NP_000009.1:p.Tyr631Asp
NM_001033859.2:c.1825T>G	NP_001029031.1:p.Tyr609Asp
NM_001270447.1:c.1960T>G	NP_001257376.1:p.Tyr654Asp
NM_001270448.1:c.1663T>G	NP_001257377.1:p.Tyr555Asp
XM_006721516.2:c.1912T>G	XP_006721579.2:p.Tyr638Asp
XM_011523829.1:c.1810T>G	XP_011522131.1:p.Tyr604Asp
XM_011523830.1:c.1789T>G	XP_011522132.1:p.Tyr597Asp
XR_934021.1:n.1994T>G
XR_934022.1:n.1900T>G
XR_934023.1:n.1921T>G
XM_006721516.3:c.1912T>G	XP_006721579.2:p.Tyr638Asp
XM_011523829.2:c.1810T>G	XP_011522131.1:p.Tyr604Asp
XM_011523830.2:c.1789T>G	XP_011522132.1:p.Tyr597Asp
XM_024450741.1:c.1879T>G	XP_024306509.1:p.Tyr627Asp
XR_934021.2:n.1946T>G
XR_934022.2:n.1852T>G
XR_934023.2:n.1873T>G
NM_000018.4:c.1891T>G MANE Select	NP_000009.1:p.Tyr631Asp
NM_001033859.3:c.1825T>G	NP_001029031.1:p.Tyr609Asp
NM_001270447.2:c.1960T>G	NP_001257376.1:p.Tyr654Asp
NM_001270448.2:c.1663T>G	NP_001257377.1:p.Tyr555Asp