Canonical Allele Identifier: CA397723011

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124866T>G (hg19) ; chr17:g.7221547T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221547T>G , CM000679.2:g.7221547T>G	GRCh38
NC_000017.10:g.7124866T>G , CM000679.1:g.7124866T>G	GRCh37
NC_000017.9:g.7065590T>G	NCBI36
NG_007975.1:g.6714T>G
NG_008391.2:g.3504A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.487T>G MANE Select	ENSP00000349297.5:p.Leu163Val
ENST00000322910.9:c.*442T>G	ENSP00000325395.5:n.*442T>G
ENST00000350303.9:c.421T>G	ENSP00000344152.5:p.Leu141Val
ENST00000356839.9:c.487T>G	ENSP00000349297.5:p.Leu163Val
ENST00000543245.6:c.556T>G	ENSP00000438689.2:p.Leu186Val
ENST00000577191.5:n.564T>G
ENST00000577433.5:n.695T>G
ENST00000577857.5:n.303T>G
ENST00000579286.5:n.668T>G
ENST00000579886.2:c.325T>G	ENSP00000463246.1:p.Leu109Val
ENST00000580365.1:n.218T>G
ENST00000581378.5:c.205T>G
ENST00000581562.5:n.525-405T>G
ENST00000582166.1:n.468T>G
ENST00000583312.5:c.487T>G	ENSP00000467920.1:p.Leu163Val
ENST00000583760.1:n.269T>G
NM_000018.3:c.487T>G	NP_000009.1:p.Leu163Val
NM_001033859.2:c.421T>G	NP_001029031.1:p.Leu141Val
NM_001270447.1:c.556T>G	NP_001257376.1:p.Leu186Val
NM_001270448.1:c.259T>G	NP_001257377.1:p.Leu87Val
XM_006721516.2:c.487T>G	XP_006721579.2:p.Leu163Val
XM_011523829.1:c.487T>G	XP_011522131.1:p.Leu163Val
XM_011523830.1:c.487T>G	XP_011522132.1:p.Leu163Val
XR_934021.1:n.594T>G
XR_934022.1:n.594T>G
XR_934023.1:n.594T>G
XM_006721516.3:c.487T>G	XP_006721579.2:p.Leu163Val
XM_011523829.2:c.487T>G	XP_011522131.1:p.Leu163Val
XM_011523830.2:c.487T>G	XP_011522132.1:p.Leu163Val
XM_024450741.1:c.487T>G	XP_024306509.1:p.Leu163Val
XR_934021.2:n.546T>G
XR_934022.2:n.546T>G
XR_934023.2:n.546T>G
NM_000018.4:c.487T>G MANE Select	NP_000009.1:p.Leu163Val
NM_001033859.3:c.421T>G	NP_001029031.1:p.Leu141Val
NM_001270447.2:c.556T>G	NP_001257376.1:p.Leu186Val
NM_001270448.2:c.259T>G	NP_001257377.1:p.Leu87Val