Canonical Allele Identifier: CA35861108

Gene: ASPM

Linked Data

• dbSNP Id: rs367982140
• gnomAD v4: 1-197088400-T-G
• MyVariant Identifiers: chr1:g.197057530T>G (hg19) ; chr1:g.197088400T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088400T>G , CM000663.2:g.197088400T>G	GRCh38
NC_000001.10:g.197057530T>G , CM000663.1:g.197057530T>G	GRCh37
NC_000001.9:g.195324153T>G	NCBI36
NG_015867.1:g.63295A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3304A>C
ENST00000367409.9:c.10017A>C MANE Select	ENSP00000356379.4:p.Val3339=
ENST00000680265.1:c.10239A>C	ENSP00000505384.1:p.Val3413=
ENST00000680710.1:c.9993A>C	ENSP00000506676.1:p.Val3331=
ENST00000294732.11:c.5262A>C	ENSP00000294732.7:p.Val1754=
ENST00000367408.5:c.3012A>C	ENSP00000356378.1:p.Val1004=
ENST00000367409.8:c.10017A>C	ENSP00000356379.4:p.Val3339=
ENST00000612785.1:c.3975A>C	ENSP00000479244.1:p.Val1325=
NM_001206846.1:c.5262A>C	NP_001193775.1:p.Val1754=
NM_018136.4:c.10017A>C	NP_060606.3:p.Val3339=
NM_018136.5:c.10017A>C MANE Select	NP_060606.3:p.Val3339=
NM_001206846.2:c.5262A>C	NP_001193775.1:p.Val1754=