Canonical Allele Identifier: CA397725884

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128166A>C (hg19) ; chr17:g.7224847A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224847A>C , CM000679.2:g.7224847A>C	GRCh38
NC_000017.10:g.7128166A>C , CM000679.1:g.7128166A>C	GRCh37
NC_000017.9:g.7068890A>C	NCBI36
NG_007975.1:g.10014A>C
NG_008391.2:g.204T>G
NG_033038.1:g.14698T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1790A>C MANE Select	ENSP00000349297.5:p.Gln597Pro
ENST00000322910.9:c.*1745A>C	ENSP00000325395.5:n.*1745A>C
ENST00000350303.9:c.1724A>C	ENSP00000344152.5:p.Gln575Pro
ENST00000356839.9:c.1790A>C	ENSP00000349297.5:p.Gln597Pro
ENST00000542255.6:c.669A>C
ENST00000543245.6:c.1859A>C	ENSP00000438689.2:p.Gln620Pro
ENST00000578033.1:n.215A>C
ENST00000578319.5:n.371A>C
ENST00000578711.1:n.1343A>C
ENST00000578809.5:n.362A>C
ENST00000579425.5:n.906A>C
ENST00000579546.1:c.525A>C
ENST00000583848.5:c.156A>C	ENSP00000466487.1:n.156A>C
ENST00000583850.5:n.561A>C
ENST00000583858.5:c.721A>C
NM_000018.3:c.1790A>C	NP_000009.1:p.Gln597Pro
NM_001033859.2:c.1724A>C	NP_001029031.1:p.Gln575Pro
NM_001270447.1:c.1859A>C	NP_001257376.1:p.Gln620Pro
NM_001270448.1:c.1562A>C	NP_001257377.1:p.Gln521Pro
XM_006721516.2:c.1811A>C	XP_006721579.2:p.Gln604Pro
XM_011523829.1:c.1709A>C	XP_011522131.1:p.Gln570Pro
XM_011523830.1:c.1688A>C	XP_011522132.1:p.Gln563Pro
XR_934021.1:n.1893A>C
XR_934022.1:n.1799A>C
XR_934023.1:n.1820A>C
XM_006721516.3:c.1811A>C	XP_006721579.2:p.Gln604Pro
XM_011523829.2:c.1709A>C	XP_011522131.1:p.Gln570Pro
XM_011523830.2:c.1688A>C	XP_011522132.1:p.Gln563Pro
XM_024450741.1:c.1778A>C	XP_024306509.1:p.Gln593Pro
XR_934021.2:n.1845A>C
XR_934022.2:n.1751A>C
XR_934023.2:n.1772A>C
NM_000018.4:c.1790A>C MANE Select	NP_000009.1:p.Gln597Pro
NM_001033859.3:c.1724A>C	NP_001029031.1:p.Gln575Pro
NM_001270447.2:c.1859A>C	NP_001257376.1:p.Gln620Pro
NM_001270448.2:c.1562A>C	NP_001257377.1:p.Gln521Pro