Canonical Allele Identifier: CA397722831

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124302G>C (hg19) ; chr17:g.7220983G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220983G>C , CM000679.2:g.7220983G>C	GRCh38
NC_000017.10:g.7124302G>C , CM000679.1:g.7124302G>C	GRCh37
NC_000017.9:g.7065026G>C	NCBI36
NG_007975.1:g.6150G>C
NG_008391.2:g.4068C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.402G>C MANE Select	ENSP00000349297.5:p.Gln134His
ENST00000322910.9:c.*357G>C	ENSP00000325395.5:n.*357G>C
ENST00000350303.9:c.336G>C	ENSP00000344152.5:p.Gln112His
ENST00000356839.9:c.402G>C	ENSP00000349297.5:p.Gln134His
ENST00000543245.6:c.471G>C	ENSP00000438689.2:p.Gln157His
ENST00000577191.5:n.479G>C
ENST00000577433.5:n.610G>C
ENST00000577857.5:n.293+153G>C
ENST00000579286.5:n.583G>C
ENST00000579886.2:c.240G>C	ENSP00000463246.1:p.Gln80His
ENST00000580365.1:n.133G>C
ENST00000581378.5:c.101G>C
ENST00000581562.5:n.449G>C
ENST00000582056.5:n.585G>C
ENST00000582166.1:n.383G>C
ENST00000583312.5:c.402G>C	ENSP00000467920.1:p.Gln134His
ENST00000584103.5:c.435G>C	ENSP00000465353.1:p.Gln145His
NM_000018.3:c.402G>C	NP_000009.1:p.Gln134His
NM_001033859.2:c.336G>C	NP_001029031.1:p.Gln112His
NM_001270447.1:c.471G>C	NP_001257376.1:p.Gln157His
NM_001270448.1:c.174G>C	NP_001257377.1:p.Gln58His
XM_006721516.2:c.402G>C	XP_006721579.2:p.Gln134His
XM_011523829.1:c.402G>C	XP_011522131.1:p.Gln134His
XM_011523830.1:c.402G>C	XP_011522132.1:p.Gln134His
XR_934021.1:n.509G>C
XR_934022.1:n.509G>C
XR_934023.1:n.509G>C
XM_006721516.3:c.402G>C	XP_006721579.2:p.Gln134His
XM_011523829.2:c.402G>C	XP_011522131.1:p.Gln134His
XM_011523830.2:c.402G>C	XP_011522132.1:p.Gln134His
XM_024450741.1:c.402G>C	XP_024306509.1:p.Gln134His
XR_934021.2:n.461G>C
XR_934022.2:n.461G>C
XR_934023.2:n.461G>C
NM_000018.4:c.402G>C MANE Select	NP_000009.1:p.Gln134His
NM_001033859.3:c.336G>C	NP_001029031.1:p.Gln112His
NM_001270447.2:c.471G>C	NP_001257376.1:p.Gln157His
NM_001270448.2:c.174G>C	NP_001257377.1:p.Gln58His