Canonical Allele Identifier: CA8338253

Gene: ACADVL

Linked Data

• dbSNP Id: rs200709964
• ExAC: 17:7128092 G / C
• gnomAD v2: 17-7128092-G-C
• gnomAD v4: 17-7224773-G-C
• MyVariant Identifiers: chr17:g.7128092G>C (hg19) ; chr17:g.7224773G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224773G>C , CM000679.2:g.7224773G>C	GRCh38
NC_000017.10:g.7128092G>C , CM000679.1:g.7128092G>C	GRCh37
NC_000017.9:g.7068816G>C	NCBI36
NG_007975.1:g.9940G>C
NG_008391.2:g.278C>G
NG_033038.1:g.14772C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1752-36G>C MANE Select	ENSP00000349297.5:n.1752-36G>C
ENST00000322910.9:c.*1707-36G>C	ENSP00000325395.5:n.*1707-36G>C
ENST00000350303.9:c.1686-36G>C	ENSP00000344152.5:n.1686-36G>C
ENST00000356839.9:c.1752-36G>C	ENSP00000349297.5:n.1752-36G>C
ENST00000542255.6:c.595G>C
ENST00000543245.6:c.1821-36G>C	ENSP00000438689.2:n.1821-36G>C
ENST00000578033.1:n.141G>C
ENST00000578319.5:n.333-36G>C
ENST00000578711.1:n.1269G>C
ENST00000578809.5:n.324-36G>C
ENST00000579425.5:n.868-36G>C
ENST00000579546.1:c.487-36G>C
ENST00000583074.5:n.358G>C
ENST00000583848.5:c.118-36G>C	ENSP00000466487.1:n.118-36G>C
ENST00000583850.5:n.523-36G>C
ENST00000583858.5:c.683-36G>C
ENST00000585203.6:n.943-36G>C
NM_000018.3:c.1752-36G>C	NP_000009.1:n.1752-36G>C
NM_001033859.2:c.1686-36G>C	NP_001029031.1:n.1686-36G>C
NM_001270447.1:c.1821-36G>C	NP_001257376.1:n.1821-36G>C
NM_001270448.1:c.1524-36G>C	NP_001257377.1:n.1524-36G>C
XM_006721516.2:c.1737G>C	XP_006721579.2:p.Pro579=
XM_011523829.1:c.1635G>C	XP_011522131.1:p.Pro545=
XM_011523830.1:c.1650-36G>C	XP_011522132.1:n.1650-36G>C
XR_934021.1:n.1855-36G>C
XR_934022.1:n.1761-36G>C
XR_934023.1:n.1746G>C
XM_006721516.3:c.1737G>C	XP_006721579.2:p.Pro579=
XM_011523829.2:c.1635G>C	XP_011522131.1:p.Pro545=
XM_011523830.2:c.1650-36G>C	XP_011522132.1:n.1650-36G>C
XM_024450741.1:c.1740-36G>C	XP_024306509.1:n.1740-36G>C
XR_934021.2:n.1807-36G>C
XR_934022.2:n.1713-36G>C
XR_934023.2:n.1698G>C
NM_000018.4:c.1752-36G>C MANE Select	NP_000009.1:n.1752-36G>C
NM_001033859.3:c.1686-36G>C	NP_001029031.1:n.1686-36G>C
NM_001270447.2:c.1821-36G>C	NP_001257376.1:n.1821-36G>C
NM_001270448.2:c.1524-36G>C	NP_001257377.1:n.1524-36G>C