Canonical Allele Identifier: CA8337758

Gene: ACADVL

Linked Data

• dbSNP Id: rs767318783
• ExAC: 17:7124934 T / C
• gnomAD v2: 17-7124934-T-C
• gnomAD v4: 17-7221615-T-C
• MyVariant Identifiers: chr17:g.7124934T>C (hg19) ; chr17:g.7221615T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221615T>C , CM000679.2:g.7221615T>C	GRCh38
NC_000017.10:g.7124934T>C , CM000679.1:g.7124934T>C	GRCh37
NC_000017.9:g.7065658T>C	NCBI36
NG_007975.1:g.6782T>C
NG_008391.2:g.3436A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.555T>C MANE Select	ENSP00000349297.5:p.Gly185=
ENST00000322910.9:c.*510T>C	ENSP00000325395.5:n.*510T>C
ENST00000350303.9:c.489T>C	ENSP00000344152.5:p.Gly163=
ENST00000356839.9:c.555T>C	ENSP00000349297.5:p.Gly185=
ENST00000543245.6:c.624T>C	ENSP00000438689.2:p.Gly208=
ENST00000577191.5:n.632T>C
ENST00000577433.5:n.763T>C
ENST00000577857.5:n.371T>C
ENST00000579286.5:n.736T>C
ENST00000579886.2:c.393T>C	ENSP00000463246.1:p.Gly131=
ENST00000580365.1:n.286T>C
ENST00000581378.5:c.273T>C
ENST00000581562.5:n.525-337T>C
ENST00000582166.1:n.536T>C
ENST00000583312.5:c.555T>C	ENSP00000467920.1:p.Gly185=
ENST00000583760.1:n.337T>C
NM_000018.3:c.555T>C	NP_000009.1:p.Gly185=
NM_001033859.2:c.489T>C	NP_001029031.1:p.Gly163=
NM_001270447.1:c.624T>C	NP_001257376.1:p.Gly208=
NM_001270448.1:c.327T>C	NP_001257377.1:p.Gly109=
XM_006721516.2:c.555T>C	XP_006721579.2:p.Gly185=
XM_011523829.1:c.555T>C	XP_011522131.1:p.Gly185=
XM_011523830.1:c.555T>C	XP_011522132.1:p.Gly185=
XR_934021.1:n.662T>C
XR_934022.1:n.662T>C
XR_934023.1:n.662T>C
XM_006721516.3:c.555T>C	XP_006721579.2:p.Gly185=
XM_011523829.2:c.555T>C	XP_011522131.1:p.Gly185=
XM_011523830.2:c.555T>C	XP_011522132.1:p.Gly185=
XM_024450741.1:c.555T>C	XP_024306509.1:p.Gly185=
XR_934021.2:n.614T>C
XR_934022.2:n.614T>C
XR_934023.2:n.614T>C
NM_000018.4:c.555T>C MANE Select	NP_000009.1:p.Gly185=
NM_001033859.3:c.489T>C	NP_001029031.1:p.Gly163=
NM_001270447.2:c.624T>C	NP_001257376.1:p.Gly208=
NM_001270448.2:c.327T>C	NP_001257377.1:p.Gly109=