Canonical Allele Identifier: CA8337976

Gene: ACADVL

Linked Data

• dbSNP Id: rs777778829
• ExAC: 17:7126522 T / C
• gnomAD v2: 17-7126522-T-C
• gnomAD v4: 17-7223203-T-C
• MyVariant Identifiers: chr17:g.7126522T>C (hg19) ; chr17:g.7223203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223203T>C , CM000679.2:g.7223203T>C	GRCh38
NC_000017.10:g.7126522T>C , CM000679.1:g.7126522T>C	GRCh37
NC_000017.9:g.7067246T>C	NCBI36
NG_007975.1:g.8370T>C
NG_008391.2:g.1848A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1148T>C MANE Select	ENSP00000349297.5:p.Leu383Pro
ENST00000322910.9:c.*1103T>C	ENSP00000325395.5:n.*1103T>C
ENST00000350303.9:c.1082T>C	ENSP00000344152.5:p.Leu361Pro
ENST00000356839.9:c.1148T>C	ENSP00000349297.5:p.Leu383Pro
ENST00000542255.6:c.6T>C
ENST00000543245.6:c.1217T>C	ENSP00000438689.2:p.Leu406Pro
ENST00000578579.2:n.97T>C
ENST00000578824.5:n.564T>C
ENST00000579425.5:n.172T>C
ENST00000582379.1:n.799T>C
ENST00000583858.5:c.177T>C
ENST00000585203.6:n.356T>C
NM_000018.3:c.1148T>C	NP_000009.1:p.Leu383Pro
NM_001033859.2:c.1082T>C	NP_001029031.1:p.Leu361Pro
NM_001270447.1:c.1217T>C	NP_001257376.1:p.Leu406Pro
NM_001270448.1:c.920T>C	NP_001257377.1:p.Leu307Pro
XM_006721516.2:c.1148T>C	XP_006721579.2:p.Leu383Pro
XM_011523829.1:c.1148T>C	XP_011522131.1:p.Leu383Pro
XM_011523830.1:c.1148T>C	XP_011522132.1:p.Leu383Pro
XR_934021.1:n.1255T>C
XR_934022.1:n.1255T>C
XR_934023.1:n.1255T>C
XM_006721516.3:c.1148T>C	XP_006721579.2:p.Leu383Pro
XM_011523829.2:c.1148T>C	XP_011522131.1:p.Leu383Pro
XM_011523830.2:c.1148T>C	XP_011522132.1:p.Leu383Pro
XM_024450741.1:c.1148T>C	XP_024306509.1:p.Leu383Pro
XR_934021.2:n.1207T>C
XR_934022.2:n.1207T>C
XR_934023.2:n.1207T>C
NM_000018.4:c.1148T>C MANE Select	NP_000009.1:p.Leu383Pro
NM_001033859.3:c.1082T>C	NP_001029031.1:p.Leu361Pro
NM_001270447.2:c.1217T>C	NP_001257376.1:p.Leu406Pro
NM_001270448.2:c.920T>C	NP_001257377.1:p.Leu307Pro