Canonical Allele Identifier: CA397723440

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125321G>C (hg19) ; chr17:g.7222002G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222002G>C , CM000679.2:g.7222002G>C	GRCh38
NC_000017.10:g.7125321G>C , CM000679.1:g.7125321G>C	GRCh37
NC_000017.9:g.7066045G>C	NCBI36
NG_007975.1:g.7169G>C
NG_008391.2:g.3049C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.673G>C MANE Select	ENSP00000349297.5:p.Ala225Pro
ENST00000322910.9:c.*628G>C	ENSP00000325395.5:n.*628G>C
ENST00000350303.9:c.607G>C	ENSP00000344152.5:p.Ala203Pro
ENST00000356839.9:c.673G>C	ENSP00000349297.5:p.Ala225Pro
ENST00000543245.6:c.742G>C	ENSP00000438689.2:p.Ala248Pro
ENST00000577191.5:n.750G>C
ENST00000577857.5:n.489G>C
ENST00000579286.5:n.854G>C
ENST00000580365.1:n.404G>C
ENST00000581378.5:c.391G>C
ENST00000582379.1:n.57G>C
ENST00000583760.1:n.455G>C
NM_000018.3:c.673G>C	NP_000009.1:p.Ala225Pro
NM_001033859.2:c.607G>C	NP_001029031.1:p.Ala203Pro
NM_001270447.1:c.742G>C	NP_001257376.1:p.Ala248Pro
NM_001270448.1:c.445G>C	NP_001257377.1:p.Ala149Pro
XM_006721516.2:c.673G>C	XP_006721579.2:p.Ala225Pro
XM_011523829.1:c.673G>C	XP_011522131.1:p.Ala225Pro
XM_011523830.1:c.673G>C	XP_011522132.1:p.Ala225Pro
XR_934021.1:n.780G>C
XR_934022.1:n.780G>C
XR_934023.1:n.780G>C
XM_006721516.3:c.673G>C	XP_006721579.2:p.Ala225Pro
XM_011523829.2:c.673G>C	XP_011522131.1:p.Ala225Pro
XM_011523830.2:c.673G>C	XP_011522132.1:p.Ala225Pro
XM_024450741.1:c.673G>C	XP_024306509.1:p.Ala225Pro
XR_934021.2:n.732G>C
XR_934022.2:n.732G>C
XR_934023.2:n.732G>C
NM_000018.4:c.673G>C MANE Select	NP_000009.1:p.Ala225Pro
NM_001033859.3:c.607G>C	NP_001029031.1:p.Ala203Pro
NM_001270447.2:c.742G>C	NP_001257376.1:p.Ala248Pro
NM_001270448.2:c.445G>C	NP_001257377.1:p.Ala149Pro