Canonical Allele Identifier: CA344015956

Gene: ASPM

Linked Data

• dbSNP Id: rs778069189
• gnomAD v2: 1-197111889-G-T
• gnomAD v3: 1-197142759-G-T
• gnomAD v4: 1-197142759-G-T
• MyVariant Identifiers: chr1:g.197111889G>T (hg19) ; chr1:g.197142759G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142759G>T , CM000663.2:g.197142759G>T	GRCh38
NC_000001.10:g.197111889G>T , CM000663.1:g.197111889G>T	GRCh37
NC_000001.9:g.195378512G>T	NCBI36
NG_015867.1:g.8936C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1493C>A MANE Select	ENSP00000356379.4:p.Thr498Asn
ENST00000679766.1:n.1710C>A
ENST00000680265.1:c.1493C>A	ENSP00000505384.1:p.Thr498Asn
ENST00000680710.1:c.1493C>A	ENSP00000506676.1:p.Thr498Asn
ENST00000681879.1:c.1493C>A	ENSP00000505363.1:p.Thr498Asn
ENST00000294732.11:c.1493C>A	ENSP00000294732.7:p.Thr498Asn
ENST00000367409.8:c.1493C>A	ENSP00000356379.4:p.Thr498Asn
ENST00000612785.1:c.561+932C>A	ENSP00000479244.1:n.561+932C>A
NM_001206846.1:c.1493C>A	NP_001193775.1:p.Thr498Asn
NM_018136.4:c.1493C>A	NP_060606.3:p.Thr498Asn
NM_018136.5:c.1493C>A MANE Select	NP_060606.3:p.Thr498Asn
NM_001206846.2:c.1493C>A	NP_001193775.1:p.Thr498Asn