Canonical Allele Identifier: CA287436608

Gene: ACADVL

Linked Data

• dbSNP Id: rs933140301
• gnomAD v3: 17-7221811-A-G
• gnomAD v4: 17-7221811-A-G
• MyVariant Identifiers: chr17:g.7125130A>G (hg19) ; chr17:g.7221811A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221811A>G , CM000679.2:g.7221811A>G	GRCh38
NC_000017.10:g.7125130A>G , CM000679.1:g.7125130A>G	GRCh37
NC_000017.9:g.7065854A>G	NCBI36
NG_007975.1:g.6978A>G
NG_008391.2:g.3240T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.622+129A>G MANE Select	ENSP00000349297.5:n.622+129A>G
ENST00000322910.9:c.*577+129A>G	ENSP00000325395.5:n.*577+129A>G
ENST00000350303.9:c.556+129A>G	ENSP00000344152.5:n.556+129A>G
ENST00000356839.9:c.622+129A>G	ENSP00000349297.5:n.622+129A>G
ENST00000543245.6:c.691+129A>G	ENSP00000438689.2:n.691+129A>G
ENST00000577191.5:n.699+129A>G
ENST00000577857.5:n.438+129A>G
ENST00000579286.5:n.803+129A>G
ENST00000579886.2:c.460+129A>G	ENSP00000463246.1:n.460+129A>G
ENST00000580365.1:n.353+129A>G
ENST00000581378.5:c.340+129A>G
ENST00000581562.5:n.525-141A>G
ENST00000583312.5:c.623-126A>G	ENSP00000467920.1:n.623-126A>G
ENST00000583760.1:n.404+129A>G
NM_000018.3:c.622+129A>G	NP_000009.1:n.622+129A>G
NM_001033859.2:c.556+129A>G	NP_001029031.1:n.556+129A>G
NM_001270447.1:c.691+129A>G	NP_001257376.1:n.691+129A>G
NM_001270448.1:c.394+129A>G	NP_001257377.1:n.394+129A>G
XM_006721516.2:c.622+129A>G	XP_006721579.2:n.622+129A>G
XM_011523829.1:c.622+129A>G	XP_011522131.1:n.622+129A>G
XM_011523830.1:c.622+129A>G	XP_011522132.1:n.622+129A>G
XR_934021.1:n.729+129A>G
XR_934022.1:n.729+129A>G
XR_934023.1:n.729+129A>G
XM_006721516.3:c.622+129A>G	XP_006721579.2:n.622+129A>G
XM_011523829.2:c.622+129A>G	XP_011522131.1:n.622+129A>G
XM_011523830.2:c.622+129A>G	XP_011522132.1:n.622+129A>G
XM_024450741.1:c.622+129A>G	XP_024306509.1:n.622+129A>G
XR_934021.2:n.681+129A>G
XR_934022.2:n.681+129A>G
XR_934023.2:n.681+129A>G
NM_000018.4:c.622+129A>G MANE Select	NP_000009.1:n.622+129A>G
NM_001033859.3:c.556+129A>G	NP_001029031.1:n.556+129A>G
NM_001270447.2:c.691+129A>G	NP_001257376.1:n.691+129A>G
NM_001270448.2:c.394+129A>G	NP_001257377.1:n.394+129A>G