Canonical Allele Identifier: CA397723337

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125271G>C (hg19) ; chr17:g.7221952G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221952G>C , CM000679.2:g.7221952G>C	GRCh38
NC_000017.10:g.7125271G>C , CM000679.1:g.7125271G>C	GRCh37
NC_000017.9:g.7065995G>C	NCBI36
NG_007975.1:g.7119G>C
NG_008391.2:g.3099C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.623G>C MANE Select	ENSP00000349297.5:p.Gly208Ala
ENST00000322910.9:c.*578G>C	ENSP00000325395.5:n.*578G>C
ENST00000350303.9:c.557G>C	ENSP00000344152.5:p.Gly186Ala
ENST00000356839.9:c.623G>C	ENSP00000349297.5:p.Gly208Ala
ENST00000543245.6:c.692G>C	ENSP00000438689.2:p.Gly231Ala
ENST00000577191.5:n.700G>C
ENST00000577857.5:n.439G>C
ENST00000579286.5:n.804G>C
ENST00000579886.2:c.461G>C	ENSP00000463246.1:p.Gly154Ala
ENST00000580365.1:n.354G>C
ENST00000581378.5:c.341G>C
ENST00000581562.5:n.525G>C
ENST00000582379.1:n.7G>C
ENST00000583312.5:c.638G>C	ENSP00000467920.1:p.Gly213Ala
ENST00000583760.1:n.405G>C
NM_000018.3:c.623G>C	NP_000009.1:p.Gly208Ala
NM_001033859.2:c.557G>C	NP_001029031.1:p.Gly186Ala
NM_001270447.1:c.692G>C	NP_001257376.1:p.Gly231Ala
NM_001270448.1:c.395G>C	NP_001257377.1:p.Gly132Ala
XM_006721516.2:c.623G>C	XP_006721579.2:p.Gly208Ala
XM_011523829.1:c.623G>C	XP_011522131.1:p.Gly208Ala
XM_011523830.1:c.623G>C	XP_011522132.1:p.Gly208Ala
XR_934021.1:n.730G>C
XR_934022.1:n.730G>C
XR_934023.1:n.730G>C
XM_006721516.3:c.623G>C	XP_006721579.2:p.Gly208Ala
XM_011523829.2:c.623G>C	XP_011522131.1:p.Gly208Ala
XM_011523830.2:c.623G>C	XP_011522132.1:p.Gly208Ala
XM_024450741.1:c.623G>C	XP_024306509.1:p.Gly208Ala
XR_934021.2:n.682G>C
XR_934022.2:n.682G>C
XR_934023.2:n.682G>C
NM_000018.4:c.623G>C MANE Select	NP_000009.1:p.Gly208Ala
NM_001033859.3:c.557G>C	NP_001029031.1:p.Gly186Ala
NM_001270447.2:c.692G>C	NP_001257376.1:p.Gly231Ala
NM_001270448.2:c.395G>C	NP_001257377.1:p.Gly132Ala