Canonical Allele Identifier: CA397725870

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1781C>T MANE Select	ENSP00000349297.5:p.Pro594Leu
ENST00000322910.9:c.*1736C>T	ENSP00000325395.5:n.*1736C>T
ENST00000350303.9:c.1715C>T	ENSP00000344152.5:p.Pro572Leu
ENST00000356839.9:c.1781C>T	ENSP00000349297.5:p.Pro594Leu
ENST00000542255.6:c.660C>T
ENST00000543245.6:c.1850C>T	ENSP00000438689.2:p.Pro617Leu
ENST00000578033.1:n.206C>T
ENST00000578319.5:n.362C>T
ENST00000578711.1:n.1334C>T
ENST00000578809.5:n.353C>T
ENST00000579425.5:n.897C>T
ENST00000579546.1:c.516C>T
ENST00000583848.5:c.147C>T	ENSP00000466487.1:n.147C>T
ENST00000583850.5:n.552C>T
ENST00000583858.5:c.712C>T
NM_000018.3:c.1781C>T	NP_000009.1:p.Pro594Leu
NM_001033859.2:c.1715C>T	NP_001029031.1:p.Pro572Leu
NM_001270447.1:c.1850C>T	NP_001257376.1:p.Pro617Leu
NM_001270448.1:c.1553C>T	NP_001257377.1:p.Pro518Leu
XM_006721516.2:c.1802C>T	XP_006721579.2:p.Pro601Leu
XM_011523829.1:c.1700C>T	XP_011522131.1:p.Pro567Leu
XM_011523830.1:c.1679C>T	XP_011522132.1:p.Pro560Leu
XR_934021.1:n.1884C>T
XR_934022.1:n.1790C>T
XR_934023.1:n.1811C>T
XM_006721516.3:c.1802C>T	XP_006721579.2:p.Pro601Leu
XM_011523829.2:c.1700C>T	XP_011522131.1:p.Pro567Leu
XM_011523830.2:c.1679C>T	XP_011522132.1:p.Pro560Leu
XM_024450741.1:c.1769C>T	XP_024306509.1:p.Pro590Leu
XR_934021.2:n.1836C>T
XR_934022.2:n.1742C>T
XR_934023.2:n.1763C>T
NM_000018.4:c.1781C>T MANE Select	NP_000009.1:p.Pro594Leu
NM_001033859.3:c.1715C>T	NP_001029031.1:p.Pro572Leu
NM_001270447.2:c.1850C>T	NP_001257376.1:p.Pro617Leu
NM_001270448.2:c.1553C>T	NP_001257377.1:p.Pro518Leu