Canonical Allele Identifier: CA497620227

Gene: ACADVL

Linked Data

• dbSNP Id: rs1250294445
• gnomAD v4: 17-7222766-T-C
• MyVariant Identifiers: chr17:g.7126085T>C (hg19) ; chr17:g.7222766T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222766T>C , CM000679.2:g.7222766T>C	GRCh38
NC_000017.10:g.7126085T>C , CM000679.1:g.7126085T>C	GRCh37
NC_000017.9:g.7066809T>C	NCBI36
NG_007975.1:g.7933T>C
NG_008391.2:g.2285A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.978T>C MANE Select	ENSP00000349297.5:p.Val326=
ENST00000322910.9:c.*933T>C	ENSP00000325395.5:n.*933T>C
ENST00000350303.9:c.912T>C	ENSP00000344152.5:p.Val304=
ENST00000356839.9:c.978T>C	ENSP00000349297.5:p.Val326=
ENST00000543245.6:c.1047T>C	ENSP00000438689.2:p.Val349=
ENST00000578824.5:n.127T>C
ENST00000581378.5:c.696T>C
ENST00000582379.1:n.362T>C
ENST00000583858.5:c.7T>C
NM_000018.3:c.978T>C	NP_000009.1:p.Val326=
NM_001033859.2:c.912T>C	NP_001029031.1:p.Val304=
NM_001270447.1:c.1047T>C	NP_001257376.1:p.Val349=
NM_001270448.1:c.750T>C	NP_001257377.1:p.Val250=
XM_006721516.2:c.978T>C	XP_006721579.2:p.Val326=
XM_011523829.1:c.978T>C	XP_011522131.1:p.Val326=
XM_011523830.1:c.978T>C	XP_011522132.1:p.Val326=
XR_934021.1:n.1085T>C
XR_934022.1:n.1085T>C
XR_934023.1:n.1085T>C
XM_006721516.3:c.978T>C	XP_006721579.2:p.Val326=
XM_011523829.2:c.978T>C	XP_011522131.1:p.Val326=
XM_011523830.2:c.978T>C	XP_011522132.1:p.Val326=
XM_024450741.1:c.978T>C	XP_024306509.1:p.Val326=
XR_934021.2:n.1037T>C
XR_934022.2:n.1037T>C
XR_934023.2:n.1037T>C
NM_000018.4:c.978T>C MANE Select	NP_000009.1:p.Val326=
NM_001033859.3:c.912T>C	NP_001029031.1:p.Val304=
NM_001270447.2:c.1047T>C	NP_001257376.1:p.Val349=
NM_001270448.2:c.750T>C	NP_001257377.1:p.Val250=