Canonical Allele Identifier: CA397722935

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124354G>C (hg19) ; chr17:g.7221035G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221035G>C , CM000679.2:g.7221035G>C	GRCh38
NC_000017.10:g.7124354G>C , CM000679.1:g.7124354G>C	GRCh37
NC_000017.9:g.7065078G>C	NCBI36
NG_007975.1:g.6202G>C
NG_008391.2:g.4016C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.454G>C MANE Select	ENSP00000349297.5:p.Gly152Arg
ENST00000322910.9:c.*409G>C	ENSP00000325395.5:n.*409G>C
ENST00000350303.9:c.388G>C	ENSP00000344152.5:p.Gly130Arg
ENST00000356839.9:c.454G>C	ENSP00000349297.5:p.Gly152Arg
ENST00000543245.6:c.523G>C	ENSP00000438689.2:p.Gly175Arg
ENST00000577191.5:n.531G>C
ENST00000577433.5:n.662G>C
ENST00000577857.5:n.293+205G>C
ENST00000579286.5:n.635G>C
ENST00000579886.2:c.292G>C	ENSP00000463246.1:p.Gly98Arg
ENST00000580365.1:n.185G>C
ENST00000581378.5:c.153G>C
ENST00000581562.5:n.501G>C
ENST00000582056.5:n.637G>C
ENST00000582166.1:n.435G>C
ENST00000583312.5:c.454G>C	ENSP00000467920.1:p.Gly152Arg
NM_000018.3:c.454G>C	NP_000009.1:p.Gly152Arg
NM_001033859.2:c.388G>C	NP_001029031.1:p.Gly130Arg
NM_001270447.1:c.523G>C	NP_001257376.1:p.Gly175Arg
NM_001270448.1:c.226G>C	NP_001257377.1:p.Gly76Arg
XM_006721516.2:c.454G>C	XP_006721579.2:p.Gly152Arg
XM_011523829.1:c.454G>C	XP_011522131.1:p.Gly152Arg
XM_011523830.1:c.454G>C	XP_011522132.1:p.Gly152Arg
XR_934021.1:n.561G>C
XR_934022.1:n.561G>C
XR_934023.1:n.561G>C
XM_006721516.3:c.454G>C	XP_006721579.2:p.Gly152Arg
XM_011523829.2:c.454G>C	XP_011522131.1:p.Gly152Arg
XM_011523830.2:c.454G>C	XP_011522132.1:p.Gly152Arg
XM_024450741.1:c.454G>C	XP_024306509.1:p.Gly152Arg
XR_934021.2:n.513G>C
XR_934022.2:n.513G>C
XR_934023.2:n.513G>C
NM_000018.4:c.454G>C MANE Select	NP_000009.1:p.Gly152Arg
NM_001033859.3:c.388G>C	NP_001029031.1:p.Gly130Arg
NM_001270447.2:c.523G>C	NP_001257376.1:p.Gly175Arg
NM_001270448.2:c.226G>C	NP_001257377.1:p.Gly76Arg