Canonical Allele Identifier: CA422803496

Gene: ASPM

Linked Data

• dbSNP Id: rs145489194
• gnomAD v3: 1-197133380-G-T
• gnomAD v4: 1-197133380-G-T
• MyVariant Identifiers: chr1:g.197102510G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197133380G>T , CM000663.2:g.197133380G>T	GRCh38
NC_000001.10:g.197102510G>T , CM000663.1:g.197102510G>T	GRCh37
NC_000001.9:g.195369133G>T	NCBI36
NG_015867.1:g.18315C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.2389C>A MANE Select	ENSP00000356379.4:p.Arg797=
ENST00000680112.1:n.445C>A
ENST00000680265.1:c.2389C>A	ENSP00000505384.1:p.Arg797=
ENST00000680710.1:c.2389C>A	ENSP00000506676.1:p.Arg797=
ENST00000681879.1:c.2389C>A	ENSP00000505363.1:p.Arg797=
ENST00000294732.11:c.2389C>A	ENSP00000294732.7:p.Arg797=
ENST00000367408.5:c.139C>A	ENSP00000356378.1:p.Arg47=
ENST00000367409.8:c.2389C>A	ENSP00000356379.4:p.Arg797=
ENST00000612785.1:c.561+10311C>A	ENSP00000479244.1:n.561+10311C>A
NM_001206846.1:c.2389C>A	NP_001193775.1:p.Arg797=
NM_018136.4:c.2389C>A	NP_060606.3:p.Arg797=
NM_018136.5:c.2389C>A MANE Select	NP_060606.3:p.Arg797=
NM_001206846.2:c.2389C>A	NP_001193775.1:p.Arg797=