Canonical Allele Identifier: CA1309018

Gene: ASPM

Linked Data

• dbSNP Id: rs773062972
• ExAC: 1:197062285 C / G
• gnomAD v2: 1-197062285-C-G
• gnomAD v4: 1-197093155-C-G
• MyVariant Identifiers: chr1:g.197062285C>G (hg19) ; chr1:g.197093155C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093155C>G , CM000663.2:g.197093155C>G	GRCh38
NC_000001.10:g.197062285C>G , CM000663.1:g.197062285C>G	GRCh37
NC_000001.9:g.195328908C>G	NCBI36
NG_015867.1:g.58540G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2478G>C
ENST00000367409.9:c.9191G>C MANE Select	ENSP00000356379.4:p.Arg3064Pro
ENST00000680265.1:c.9413G>C	ENSP00000505384.1:p.Arg3138Pro
ENST00000680710.1:c.9191G>C	ENSP00000506676.1:p.Arg3064Pro
ENST00000294732.11:c.4436G>C	ENSP00000294732.7:p.Arg1479Pro
ENST00000367408.5:c.2186G>C	ENSP00000356378.1:p.Arg729Pro
ENST00000367409.8:c.9191G>C	ENSP00000356379.4:p.Arg3064Pro
ENST00000612785.1:c.3149G>C	ENSP00000479244.1:p.Arg1050Pro
NM_001206846.1:c.4436G>C	NP_001193775.1:p.Arg1479Pro
NM_018136.4:c.9191G>C	NP_060606.3:p.Arg3064Pro
NM_018136.5:c.9191G>C MANE Select	NP_060606.3:p.Arg3064Pro
NM_001206846.2:c.4436G>C	NP_001193775.1:p.Arg1479Pro