Canonical Allele Identifier: CA397723204

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221638-G-C
• MyVariant Identifiers: chr17:g.7124957G>C (hg19) ; chr17:g.7221638G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221638G>C , CM000679.2:g.7221638G>C	GRCh38
NC_000017.10:g.7124957G>C , CM000679.1:g.7124957G>C	GRCh37
NC_000017.9:g.7065681G>C	NCBI36
NG_007975.1:g.6805G>C
NG_008391.2:g.3413C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.578G>C MANE Select	ENSP00000349297.5:p.Gly193Ala
ENST00000322910.9:c.*533G>C	ENSP00000325395.5:n.*533G>C
ENST00000350303.9:c.512G>C	ENSP00000344152.5:p.Gly171Ala
ENST00000356839.9:c.578G>C	ENSP00000349297.5:p.Gly193Ala
ENST00000543245.6:c.647G>C	ENSP00000438689.2:p.Gly216Ala
ENST00000577191.5:n.655G>C
ENST00000577433.5:n.786G>C
ENST00000577857.5:n.394G>C
ENST00000579286.5:n.759G>C
ENST00000579886.2:c.416G>C	ENSP00000463246.1:p.Gly139Ala
ENST00000580365.1:n.309G>C
ENST00000581378.5:c.296G>C
ENST00000581562.5:n.525-314G>C
ENST00000583312.5:c.578G>C	ENSP00000467920.1:p.Gly193Ala
ENST00000583760.1:n.360G>C
NM_000018.3:c.578G>C	NP_000009.1:p.Gly193Ala
NM_001033859.2:c.512G>C	NP_001029031.1:p.Gly171Ala
NM_001270447.1:c.647G>C	NP_001257376.1:p.Gly216Ala
NM_001270448.1:c.350G>C	NP_001257377.1:p.Gly117Ala
XM_006721516.2:c.578G>C	XP_006721579.2:p.Gly193Ala
XM_011523829.1:c.578G>C	XP_011522131.1:p.Gly193Ala
XM_011523830.1:c.578G>C	XP_011522132.1:p.Gly193Ala
XR_934021.1:n.685G>C
XR_934022.1:n.685G>C
XR_934023.1:n.685G>C
XM_006721516.3:c.578G>C	XP_006721579.2:p.Gly193Ala
XM_011523829.2:c.578G>C	XP_011522131.1:p.Gly193Ala
XM_011523830.2:c.578G>C	XP_011522132.1:p.Gly193Ala
XM_024450741.1:c.578G>C	XP_024306509.1:p.Gly193Ala
XR_934021.2:n.637G>C
XR_934022.2:n.637G>C
XR_934023.2:n.637G>C
NM_000018.4:c.578G>C MANE Select	NP_000009.1:p.Gly193Ala
NM_001033859.3:c.512G>C	NP_001029031.1:p.Gly171Ala
NM_001270447.2:c.647G>C	NP_001257376.1:p.Gly216Ala
NM_001270448.2:c.350G>C	NP_001257377.1:p.Gly117Ala