Canonical Allele Identifier: CA397726024

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128297G>C (hg19) ; chr17:g.7224978G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224978G>C , CM000679.2:g.7224978G>C	GRCh38
NC_000017.10:g.7128297G>C , CM000679.1:g.7128297G>C	GRCh37
NC_000017.9:g.7069021G>C	NCBI36
NG_007975.1:g.10145G>C
NG_008391.2:g.73C>G
NG_033038.1:g.14567C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1849G>C MANE Select	ENSP00000349297.5:p.Gly617Arg
ENST00000322910.9:c.*1804G>C	ENSP00000325395.5:n.*1804G>C
ENST00000350303.9:c.1783G>C	ENSP00000344152.5:p.Gly595Arg
ENST00000356839.9:c.1849G>C	ENSP00000349297.5:p.Gly617Arg
ENST00000542255.6:c.728G>C
ENST00000543245.6:c.1918G>C	ENSP00000438689.2:p.Gly640Arg
ENST00000578033.1:n.274G>C
ENST00000578319.5:n.430G>C
ENST00000578711.1:n.1474G>C
ENST00000578809.5:n.421G>C
ENST00000579425.5:n.965G>C
ENST00000583848.5:c.215G>C	ENSP00000466487.1:n.215G>C
ENST00000583850.5:n.620G>C
ENST00000583858.5:c.780G>C
NM_000018.3:c.1849G>C	NP_000009.1:p.Gly617Arg
NM_001033859.2:c.1783G>C	NP_001029031.1:p.Gly595Arg
NM_001270447.1:c.1918G>C	NP_001257376.1:p.Gly640Arg
NM_001270448.1:c.1621G>C	NP_001257377.1:p.Gly541Arg
XM_006721516.2:c.1870G>C	XP_006721579.2:p.Gly624Arg
XM_011523829.1:c.1768G>C	XP_011522131.1:p.Gly590Arg
XM_011523830.1:c.1747G>C	XP_011522132.1:p.Gly583Arg
XR_934021.1:n.1952G>C
XR_934022.1:n.1858G>C
XR_934023.1:n.1879G>C
XM_006721516.3:c.1870G>C	XP_006721579.2:p.Gly624Arg
XM_011523829.2:c.1768G>C	XP_011522131.1:p.Gly590Arg
XM_011523830.2:c.1747G>C	XP_011522132.1:p.Gly583Arg
XM_024450741.1:c.1837G>C	XP_024306509.1:p.Gly613Arg
XR_934021.2:n.1904G>C
XR_934022.2:n.1810G>C
XR_934023.2:n.1831G>C
NM_000018.4:c.1849G>C MANE Select	NP_000009.1:p.Gly617Arg
NM_001033859.3:c.1783G>C	NP_001029031.1:p.Gly595Arg
NM_001270447.2:c.1918G>C	NP_001257376.1:p.Gly640Arg
NM_001270448.2:c.1621G>C	NP_001257377.1:p.Gly541Arg