Canonical Allele Identifier: CA344007381

Gene: ASPM

Linked Data

• dbSNP Id: rs368000478
• gnomAD v2: 1-197062324-C-G
• gnomAD v4: 1-197093194-C-G
• MyVariant Identifiers: chr1:g.197062324C>G (hg19) ; chr1:g.197093194C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093194C>G , CM000663.2:g.197093194C>G	GRCh38
NC_000001.10:g.197062324C>G , CM000663.1:g.197062324C>G	GRCh37
NC_000001.9:g.195328947C>G	NCBI36
NG_015867.1:g.58501G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2439G>C
ENST00000367409.9:c.9152G>C MANE Select	ENSP00000356379.4:p.Arg3051Pro
ENST00000680265.1:c.9374G>C	ENSP00000505384.1:p.Arg3125Pro
ENST00000680710.1:c.9152G>C	ENSP00000506676.1:p.Arg3051Pro
ENST00000294732.11:c.4397G>C	ENSP00000294732.7:p.Arg1466Pro
ENST00000367408.5:c.2147G>C	ENSP00000356378.1:p.Arg716Pro
ENST00000367409.8:c.9152G>C	ENSP00000356379.4:p.Arg3051Pro
ENST00000612785.1:c.3110G>C	ENSP00000479244.1:p.Arg1037Pro
NM_001206846.1:c.4397G>C	NP_001193775.1:p.Arg1466Pro
NM_018136.4:c.9152G>C	NP_060606.3:p.Arg3051Pro
NM_018136.5:c.9152G>C MANE Select	NP_060606.3:p.Arg3051Pro
NM_001206846.2:c.4397G>C	NP_001193775.1:p.Arg1466Pro