Canonical Allele Identifier: CA397722939

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124357G>C (hg19) ; chr17:g.7221038G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221038G>C , CM000679.2:g.7221038G>C	GRCh38
NC_000017.10:g.7124357G>C , CM000679.1:g.7124357G>C	GRCh37
NC_000017.9:g.7065081G>C	NCBI36
NG_007975.1:g.6205G>C
NG_008391.2:g.4013C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.457G>C MANE Select	ENSP00000349297.5:p.Val153Leu
ENST00000322910.9:c.*412G>C	ENSP00000325395.5:n.*412G>C
ENST00000350303.9:c.391G>C	ENSP00000344152.5:p.Val131Leu
ENST00000356839.9:c.457G>C	ENSP00000349297.5:p.Val153Leu
ENST00000543245.6:c.526G>C	ENSP00000438689.2:p.Val176Leu
ENST00000577191.5:n.534G>C
ENST00000577433.5:n.665G>C
ENST00000577857.5:n.293+208G>C
ENST00000579286.5:n.638G>C
ENST00000579886.2:c.295G>C	ENSP00000463246.1:p.Val99Leu
ENST00000580365.1:n.188G>C
ENST00000581378.5:c.156G>C
ENST00000581562.5:n.504G>C
ENST00000582056.5:n.640G>C
ENST00000582166.1:n.438G>C
ENST00000583312.5:c.457G>C	ENSP00000467920.1:p.Val153Leu
NM_000018.3:c.457G>C	NP_000009.1:p.Val153Leu
NM_001033859.2:c.391G>C	NP_001029031.1:p.Val131Leu
NM_001270447.1:c.526G>C	NP_001257376.1:p.Val176Leu
NM_001270448.1:c.229G>C	NP_001257377.1:p.Val77Leu
XM_006721516.2:c.457G>C	XP_006721579.2:p.Val153Leu
XM_011523829.1:c.457G>C	XP_011522131.1:p.Val153Leu
XM_011523830.1:c.457G>C	XP_011522132.1:p.Val153Leu
XR_934021.1:n.564G>C
XR_934022.1:n.564G>C
XR_934023.1:n.564G>C
XM_006721516.3:c.457G>C	XP_006721579.2:p.Val153Leu
XM_011523829.2:c.457G>C	XP_011522131.1:p.Val153Leu
XM_011523830.2:c.457G>C	XP_011522132.1:p.Val153Leu
XM_024450741.1:c.457G>C	XP_024306509.1:p.Val153Leu
XR_934021.2:n.516G>C
XR_934022.2:n.516G>C
XR_934023.2:n.516G>C
NM_000018.4:c.457G>C MANE Select	NP_000009.1:p.Val153Leu
NM_001033859.3:c.391G>C	NP_001029031.1:p.Val131Leu
NM_001270447.2:c.526G>C	NP_001257376.1:p.Val176Leu
NM_001270448.2:c.229G>C	NP_001257377.1:p.Val77Leu