Canonical Allele Identifier: CA397725868

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128157C>A (hg19) ; chr17:g.7224838C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224838C>A , CM000679.2:g.7224838C>A	GRCh38
NC_000017.10:g.7128157C>A , CM000679.1:g.7128157C>A	GRCh37
NC_000017.9:g.7068881C>A	NCBI36
NG_007975.1:g.10005C>A
NG_008391.2:g.213G>T
NG_033038.1:g.14707G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1781C>A MANE Select	ENSP00000349297.5:p.Pro594His
ENST00000322910.9:c.*1736C>A	ENSP00000325395.5:n.*1736C>A
ENST00000350303.9:c.1715C>A	ENSP00000344152.5:p.Pro572His
ENST00000356839.9:c.1781C>A	ENSP00000349297.5:p.Pro594His
ENST00000542255.6:c.660C>A
ENST00000543245.6:c.1850C>A	ENSP00000438689.2:p.Pro617His
ENST00000578033.1:n.206C>A
ENST00000578319.5:n.362C>A
ENST00000578711.1:n.1334C>A
ENST00000578809.5:n.353C>A
ENST00000579425.5:n.897C>A
ENST00000579546.1:c.516C>A
ENST00000583848.5:c.147C>A	ENSP00000466487.1:n.147C>A
ENST00000583850.5:n.552C>A
ENST00000583858.5:c.712C>A
NM_000018.3:c.1781C>A	NP_000009.1:p.Pro594His
NM_001033859.2:c.1715C>A	NP_001029031.1:p.Pro572His
NM_001270447.1:c.1850C>A	NP_001257376.1:p.Pro617His
NM_001270448.1:c.1553C>A	NP_001257377.1:p.Pro518His
XM_006721516.2:c.1802C>A	XP_006721579.2:p.Pro601His
XM_011523829.1:c.1700C>A	XP_011522131.1:p.Pro567His
XM_011523830.1:c.1679C>A	XP_011522132.1:p.Pro560His
XR_934021.1:n.1884C>A
XR_934022.1:n.1790C>A
XR_934023.1:n.1811C>A
XM_006721516.3:c.1802C>A	XP_006721579.2:p.Pro601His
XM_011523829.2:c.1700C>A	XP_011522131.1:p.Pro567His
XM_011523830.2:c.1679C>A	XP_011522132.1:p.Pro560His
XM_024450741.1:c.1769C>A	XP_024306509.1:p.Pro590His
XR_934021.2:n.1836C>A
XR_934022.2:n.1742C>A
XR_934023.2:n.1763C>A
NM_000018.4:c.1781C>A MANE Select	NP_000009.1:p.Pro594His
NM_001033859.3:c.1715C>A	NP_001029031.1:p.Pro572His
NM_001270447.2:c.1850C>A	NP_001257376.1:p.Pro617His
NM_001270448.2:c.1553C>A	NP_001257377.1:p.Pro518His