Canonical Allele Identifier: CA397723083

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124897G>C (hg19) ; chr17:g.7221578G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221578G>C , CM000679.2:g.7221578G>C	GRCh38
NC_000017.10:g.7124897G>C , CM000679.1:g.7124897G>C	GRCh37
NC_000017.9:g.7065621G>C	NCBI36
NG_007975.1:g.6745G>C
NG_008391.2:g.3473C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.518G>C MANE Select	ENSP00000349297.5:p.Gly173Ala
ENST00000322910.9:c.*473G>C	ENSP00000325395.5:n.*473G>C
ENST00000350303.9:c.452G>C	ENSP00000344152.5:p.Gly151Ala
ENST00000356839.9:c.518G>C	ENSP00000349297.5:p.Gly173Ala
ENST00000543245.6:c.587G>C	ENSP00000438689.2:p.Gly196Ala
ENST00000577191.5:n.595G>C
ENST00000577433.5:n.726G>C
ENST00000577857.5:n.334G>C
ENST00000579286.5:n.699G>C
ENST00000579886.2:c.356G>C	ENSP00000463246.1:p.Gly119Ala
ENST00000580365.1:n.249G>C
ENST00000581378.5:c.236G>C
ENST00000581562.5:n.525-374G>C
ENST00000582166.1:n.499G>C
ENST00000583312.5:c.518G>C	ENSP00000467920.1:p.Gly173Ala
ENST00000583760.1:n.300G>C
NM_000018.3:c.518G>C	NP_000009.1:p.Gly173Ala
NM_001033859.2:c.452G>C	NP_001029031.1:p.Gly151Ala
NM_001270447.1:c.587G>C	NP_001257376.1:p.Gly196Ala
NM_001270448.1:c.290G>C	NP_001257377.1:p.Gly97Ala
XM_006721516.2:c.518G>C	XP_006721579.2:p.Gly173Ala
XM_011523829.1:c.518G>C	XP_011522131.1:p.Gly173Ala
XM_011523830.1:c.518G>C	XP_011522132.1:p.Gly173Ala
XR_934021.1:n.625G>C
XR_934022.1:n.625G>C
XR_934023.1:n.625G>C
XM_006721516.3:c.518G>C	XP_006721579.2:p.Gly173Ala
XM_011523829.2:c.518G>C	XP_011522131.1:p.Gly173Ala
XM_011523830.2:c.518G>C	XP_011522132.1:p.Gly173Ala
XM_024450741.1:c.518G>C	XP_024306509.1:p.Gly173Ala
XR_934021.2:n.577G>C
XR_934022.2:n.577G>C
XR_934023.2:n.577G>C
NM_000018.4:c.518G>C MANE Select	NP_000009.1:p.Gly173Ala
NM_001033859.3:c.452G>C	NP_001029031.1:p.Gly151Ala
NM_001270447.2:c.587G>C	NP_001257376.1:p.Gly196Ala
NM_001270448.2:c.290G>C	NP_001257377.1:p.Gly97Ala