Canonical Allele Identifier: CA397722996

Gene: ACADVL

Linked Data

• dbSNP Id: rs1381785963
• gnomAD v4: 17-7221538-T-C
• MyVariant Identifiers: chr17:g.7124857T>C (hg19) ; chr17:g.7221538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221538T>C , CM000679.2:g.7221538T>C	GRCh38
NC_000017.10:g.7124857T>C , CM000679.1:g.7124857T>C	GRCh37
NC_000017.9:g.7065581T>C	NCBI36
NG_007975.1:g.6705T>C
NG_008391.2:g.3513A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478T>C MANE Select	ENSP00000349297.5:p.Tyr160His
ENST00000322910.9:c.*433T>C	ENSP00000325395.5:n.*433T>C
ENST00000350303.9:c.412T>C	ENSP00000344152.5:p.Tyr138His
ENST00000356839.9:c.478T>C	ENSP00000349297.5:p.Tyr160His
ENST00000543245.6:c.547T>C	ENSP00000438689.2:p.Tyr183His
ENST00000577191.5:n.555T>C
ENST00000577433.5:n.686T>C
ENST00000577857.5:n.294T>C
ENST00000579286.5:n.659T>C
ENST00000579886.2:c.316T>C	ENSP00000463246.1:p.Tyr106His
ENST00000580365.1:n.209T>C
ENST00000581378.5:c.196T>C
ENST00000581562.5:n.525-414T>C
ENST00000582166.1:n.459T>C
ENST00000583312.5:c.478T>C	ENSP00000467920.1:p.Tyr160His
ENST00000583760.1:n.260T>C
NM_000018.3:c.478T>C	NP_000009.1:p.Tyr160His
NM_001033859.2:c.412T>C	NP_001029031.1:p.Tyr138His
NM_001270447.1:c.547T>C	NP_001257376.1:p.Tyr183His
NM_001270448.1:c.250T>C	NP_001257377.1:p.Tyr84His
XM_006721516.2:c.478T>C	XP_006721579.2:p.Tyr160His
XM_011523829.1:c.478T>C	XP_011522131.1:p.Tyr160His
XM_011523830.1:c.478T>C	XP_011522132.1:p.Tyr160His
XR_934021.1:n.585T>C
XR_934022.1:n.585T>C
XR_934023.1:n.585T>C
XM_006721516.3:c.478T>C	XP_006721579.2:p.Tyr160His
XM_011523829.2:c.478T>C	XP_011522131.1:p.Tyr160His
XM_011523830.2:c.478T>C	XP_011522132.1:p.Tyr160His
XM_024450741.1:c.478T>C	XP_024306509.1:p.Tyr160His
XR_934021.2:n.537T>C
XR_934022.2:n.537T>C
XR_934023.2:n.537T>C
NM_000018.4:c.478T>C MANE Select	NP_000009.1:p.Tyr160His
NM_001033859.3:c.412T>C	NP_001029031.1:p.Tyr138His
NM_001270447.2:c.547T>C	NP_001257376.1:p.Tyr183His
NM_001270448.2:c.250T>C	NP_001257377.1:p.Tyr84His