Canonical Allele Identifier: CA397723175

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124942G>C (hg19) ; chr17:g.7221623G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221623G>C , CM000679.2:g.7221623G>C	GRCh38
NC_000017.10:g.7124942G>C , CM000679.1:g.7124942G>C	GRCh37
NC_000017.9:g.7065666G>C	NCBI36
NG_007975.1:g.6790G>C
NG_008391.2:g.3428C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.563G>C MANE Select	ENSP00000349297.5:p.Gly188Ala
ENST00000322910.9:c.*518G>C	ENSP00000325395.5:n.*518G>C
ENST00000350303.9:c.497G>C	ENSP00000344152.5:p.Gly166Ala
ENST00000356839.9:c.563G>C	ENSP00000349297.5:p.Gly188Ala
ENST00000543245.6:c.632G>C	ENSP00000438689.2:p.Gly211Ala
ENST00000577191.5:n.640G>C
ENST00000577433.5:n.771G>C
ENST00000577857.5:n.379G>C
ENST00000579286.5:n.744G>C
ENST00000579886.2:c.401G>C	ENSP00000463246.1:p.Gly134Ala
ENST00000580365.1:n.294G>C
ENST00000581378.5:c.281G>C
ENST00000581562.5:n.525-329G>C
ENST00000582166.1:n.544G>C
ENST00000583312.5:c.563G>C	ENSP00000467920.1:p.Gly188Ala
ENST00000583760.1:n.345G>C
NM_000018.3:c.563G>C	NP_000009.1:p.Gly188Ala
NM_001033859.2:c.497G>C	NP_001029031.1:p.Gly166Ala
NM_001270447.1:c.632G>C	NP_001257376.1:p.Gly211Ala
NM_001270448.1:c.335G>C	NP_001257377.1:p.Gly112Ala
XM_006721516.2:c.563G>C	XP_006721579.2:p.Gly188Ala
XM_011523829.1:c.563G>C	XP_011522131.1:p.Gly188Ala
XM_011523830.1:c.563G>C	XP_011522132.1:p.Gly188Ala
XR_934021.1:n.670G>C
XR_934022.1:n.670G>C
XR_934023.1:n.670G>C
XM_006721516.3:c.563G>C	XP_006721579.2:p.Gly188Ala
XM_011523829.2:c.563G>C	XP_011522131.1:p.Gly188Ala
XM_011523830.2:c.563G>C	XP_011522132.1:p.Gly188Ala
XM_024450741.1:c.563G>C	XP_024306509.1:p.Gly188Ala
XR_934021.2:n.622G>C
XR_934022.2:n.622G>C
XR_934023.2:n.622G>C
NM_000018.4:c.563G>C MANE Select	NP_000009.1:p.Gly188Ala
NM_001033859.3:c.497G>C	NP_001029031.1:p.Gly166Ala
NM_001270447.2:c.632G>C	NP_001257376.1:p.Gly211Ala
NM_001270448.2:c.335G>C	NP_001257377.1:p.Gly112Ala