Canonical Allele Identifier: CA497620893

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071315399
• gnomAD v4: 17-7223204-G-C
• MyVariant Identifiers: chr17:g.7126523G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223204G>C , CM000679.2:g.7223204G>C	GRCh38
NC_000017.10:g.7126523G>C , CM000679.1:g.7126523G>C	GRCh37
NC_000017.9:g.7067247G>C	NCBI36
NG_007975.1:g.8371G>C
NG_008391.2:g.1847C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1149G>C MANE Select	ENSP00000349297.5:p.Leu383=
ENST00000322910.9:c.*1104G>C	ENSP00000325395.5:n.*1104G>C
ENST00000350303.9:c.1083G>C	ENSP00000344152.5:p.Leu361=
ENST00000356839.9:c.1149G>C	ENSP00000349297.5:p.Leu383=
ENST00000542255.6:c.7G>C
ENST00000543245.6:c.1218G>C	ENSP00000438689.2:p.Leu406=
ENST00000578579.2:n.98G>C
ENST00000578824.5:n.565G>C
ENST00000579425.5:n.173G>C
ENST00000582379.1:n.800G>C
ENST00000583858.5:c.178G>C
ENST00000585203.6:n.357G>C
NM_000018.3:c.1149G>C	NP_000009.1:p.Leu383=
NM_001033859.2:c.1083G>C	NP_001029031.1:p.Leu361=
NM_001270447.1:c.1218G>C	NP_001257376.1:p.Leu406=
NM_001270448.1:c.921G>C	NP_001257377.1:p.Leu307=
XM_006721516.2:c.1149G>C	XP_006721579.2:p.Leu383=
XM_011523829.1:c.1149G>C	XP_011522131.1:p.Leu383=
XM_011523830.1:c.1149G>C	XP_011522132.1:p.Leu383=
XR_934021.1:n.1256G>C
XR_934022.1:n.1256G>C
XR_934023.1:n.1256G>C
XM_006721516.3:c.1149G>C	XP_006721579.2:p.Leu383=
XM_011523829.2:c.1149G>C	XP_011522131.1:p.Leu383=
XM_011523830.2:c.1149G>C	XP_011522132.1:p.Leu383=
XM_024450741.1:c.1149G>C	XP_024306509.1:p.Leu383=
XR_934021.2:n.1208G>C
XR_934022.2:n.1208G>C
XR_934023.2:n.1208G>C
NM_000018.4:c.1149G>C MANE Select	NP_000009.1:p.Leu383=
NM_001033859.3:c.1083G>C	NP_001029031.1:p.Leu361=
NM_001270447.2:c.1218G>C	NP_001257376.1:p.Leu406=
NM_001270448.2:c.921G>C	NP_001257377.1:p.Leu307=