Canonical Allele Identifier: CA397723133

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124925G>C (hg19) ; chr17:g.7221606G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221606G>C , CM000679.2:g.7221606G>C	GRCh38
NC_000017.10:g.7124925G>C , CM000679.1:g.7124925G>C	GRCh37
NC_000017.9:g.7065649G>C	NCBI36
NG_007975.1:g.6773G>C
NG_008391.2:g.3445C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.546G>C MANE Select	ENSP00000349297.5:p.Gln182His
ENST00000322910.9:c.*501G>C	ENSP00000325395.5:n.*501G>C
ENST00000350303.9:c.480G>C	ENSP00000344152.5:p.Gln160His
ENST00000356839.9:c.546G>C	ENSP00000349297.5:p.Gln182His
ENST00000543245.6:c.615G>C	ENSP00000438689.2:p.Gln205His
ENST00000577191.5:n.623G>C
ENST00000577433.5:n.754G>C
ENST00000577857.5:n.362G>C
ENST00000579286.5:n.727G>C
ENST00000579886.2:c.384G>C	ENSP00000463246.1:p.Gln128His
ENST00000580365.1:n.277G>C
ENST00000581378.5:c.264G>C
ENST00000581562.5:n.525-346G>C
ENST00000582166.1:n.527G>C
ENST00000583312.5:c.546G>C	ENSP00000467920.1:p.Gln182His
ENST00000583760.1:n.328G>C
NM_000018.3:c.546G>C	NP_000009.1:p.Gln182His
NM_001033859.2:c.480G>C	NP_001029031.1:p.Gln160His
NM_001270447.1:c.615G>C	NP_001257376.1:p.Gln205His
NM_001270448.1:c.318G>C	NP_001257377.1:p.Gln106His
XM_006721516.2:c.546G>C	XP_006721579.2:p.Gln182His
XM_011523829.1:c.546G>C	XP_011522131.1:p.Gln182His
XM_011523830.1:c.546G>C	XP_011522132.1:p.Gln182His
XR_934021.1:n.653G>C
XR_934022.1:n.653G>C
XR_934023.1:n.653G>C
XM_006721516.3:c.546G>C	XP_006721579.2:p.Gln182His
XM_011523829.2:c.546G>C	XP_011522131.1:p.Gln182His
XM_011523830.2:c.546G>C	XP_011522132.1:p.Gln182His
XM_024450741.1:c.546G>C	XP_024306509.1:p.Gln182His
XR_934021.2:n.605G>C
XR_934022.2:n.605G>C
XR_934023.2:n.605G>C
NM_000018.4:c.546G>C MANE Select	NP_000009.1:p.Gln182His
NM_001033859.3:c.480G>C	NP_001029031.1:p.Gln160His
NM_001270447.2:c.615G>C	NP_001257376.1:p.Gln205His
NM_001270448.2:c.318G>C	NP_001257377.1:p.Gln106His