Canonical Allele Identifier: CA397725450

Gene: ACADVL

Linked Data

• dbSNP Id: rs1597537310
• MyVariant Identifiers: chr17:g.7127703T>G (hg19) ; chr17:g.7224384T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224384T>G , CM000679.2:g.7224384T>G	GRCh38
NC_000017.10:g.7127703T>G , CM000679.1:g.7127703T>G	GRCh37
NC_000017.9:g.7068427T>G	NCBI36
NG_007975.1:g.9551T>G
NG_008391.2:g.667A>C
NG_033038.1:g.15161A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1596T>G MANE Select	ENSP00000349297.5:p.Ser532Arg
ENST00000322910.9:c.*1551T>G	ENSP00000325395.5:n.*1551T>G
ENST00000350303.9:c.1530T>G	ENSP00000344152.5:p.Ser510Arg
ENST00000356839.9:c.1596T>G	ENSP00000349297.5:p.Ser532Arg
ENST00000542255.6:c.454T>G
ENST00000543245.6:c.1665T>G	ENSP00000438689.2:p.Ser555Arg
ENST00000578319.5:n.91T>G
ENST00000578711.1:n.880T>G
ENST00000578809.5:n.168T>G
ENST00000579391.1:n.204T>G
ENST00000579425.5:n.712T>G
ENST00000579546.1:c.335T>G
ENST00000579894.5:n.383T>G
ENST00000582450.1:n.104T>G
ENST00000583074.5:n.217T>G
ENST00000583850.5:n.371T>G
ENST00000583858.5:c.527T>G
ENST00000585203.6:n.787T>G
NM_000018.3:c.1596T>G	NP_000009.1:p.Ser532Arg
NM_001033859.2:c.1530T>G	NP_001029031.1:p.Ser510Arg
NM_001270447.1:c.1665T>G	NP_001257376.1:p.Ser555Arg
NM_001270448.1:c.1368T>G	NP_001257377.1:p.Ser456Arg
XM_006721516.2:c.1596T>G	XP_006721579.2:p.Ser532Arg
XM_011523829.1:c.1498T>G	XP_011522131.1:p.Trp500Gly
XM_011523830.1:c.1498T>G	XP_011522132.1:p.Trp500Gly
XR_934021.1:n.1703T>G
XR_934022.1:n.1605T>G
XR_934023.1:n.1605T>G
XM_006721516.3:c.1596T>G	XP_006721579.2:p.Ser532Arg
XM_011523829.2:c.1498T>G	XP_011522131.1:p.Trp500Gly
XM_011523830.2:c.1498T>G	XP_011522132.1:p.Trp500Gly
XM_024450741.1:c.1498T>G	XP_024306509.1:p.Trp500Gly
XR_934021.2:n.1655T>G
XR_934022.2:n.1557T>G
XR_934023.2:n.1557T>G
NM_000018.4:c.1596T>G MANE Select	NP_000009.1:p.Ser532Arg
NM_001033859.3:c.1530T>G	NP_001029031.1:p.Ser510Arg
NM_001270447.2:c.1665T>G	NP_001257376.1:p.Ser555Arg
NM_001270448.2:c.1368T>G	NP_001257377.1:p.Ser456Arg