Canonical Allele Identifier: CA397722883

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124327G>C (hg19) ; chr17:g.7221008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221008G>C , CM000679.2:g.7221008G>C	GRCh38
NC_000017.10:g.7124327G>C , CM000679.1:g.7124327G>C	GRCh37
NC_000017.9:g.7065051G>C	NCBI36
NG_007975.1:g.6175G>C
NG_008391.2:g.4043C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.427G>C MANE Select	ENSP00000349297.5:p.Gly143Arg
ENST00000322910.9:c.*382G>C	ENSP00000325395.5:n.*382G>C
ENST00000350303.9:c.361G>C	ENSP00000344152.5:p.Gly121Arg
ENST00000356839.9:c.427G>C	ENSP00000349297.5:p.Gly143Arg
ENST00000543245.6:c.496G>C	ENSP00000438689.2:p.Gly166Arg
ENST00000577191.5:n.504G>C
ENST00000577433.5:n.635G>C
ENST00000577857.5:n.293+178G>C
ENST00000579286.5:n.608G>C
ENST00000579886.2:c.265G>C	ENSP00000463246.1:p.Gly89Arg
ENST00000580365.1:n.158G>C
ENST00000581378.5:c.126G>C
ENST00000581562.5:n.474G>C
ENST00000582056.5:n.610G>C
ENST00000582166.1:n.408G>C
ENST00000583312.5:c.427G>C	ENSP00000467920.1:p.Gly143Arg
ENST00000584103.5:c.460G>C	ENSP00000465353.1:p.Gly154Arg
NM_000018.3:c.427G>C	NP_000009.1:p.Gly143Arg
NM_001033859.2:c.361G>C	NP_001029031.1:p.Gly121Arg
NM_001270447.1:c.496G>C	NP_001257376.1:p.Gly166Arg
NM_001270448.1:c.199G>C	NP_001257377.1:p.Gly67Arg
XM_006721516.2:c.427G>C	XP_006721579.2:p.Gly143Arg
XM_011523829.1:c.427G>C	XP_011522131.1:p.Gly143Arg
XM_011523830.1:c.427G>C	XP_011522132.1:p.Gly143Arg
XR_934021.1:n.534G>C
XR_934022.1:n.534G>C
XR_934023.1:n.534G>C
XM_006721516.3:c.427G>C	XP_006721579.2:p.Gly143Arg
XM_011523829.2:c.427G>C	XP_011522131.1:p.Gly143Arg
XM_011523830.2:c.427G>C	XP_011522132.1:p.Gly143Arg
XM_024450741.1:c.427G>C	XP_024306509.1:p.Gly143Arg
XR_934021.2:n.486G>C
XR_934022.2:n.486G>C
XR_934023.2:n.486G>C
NM_000018.4:c.427G>C MANE Select	NP_000009.1:p.Gly143Arg
NM_001033859.3:c.361G>C	NP_001029031.1:p.Gly121Arg
NM_001270447.2:c.496G>C	NP_001257376.1:p.Gly166Arg
NM_001270448.2:c.199G>C	NP_001257377.1:p.Gly67Arg