Canonical Allele Identifier: CA344001702

Gene: ASPM

Linked Data

• dbSNP Id: rs1359463183
• gnomAD v2: 1-197059370-G-A
• gnomAD v4: 1-197090240-G-A
• MyVariant Identifiers: chr1:g.197059370G>A (hg19) ; chr1:g.197090240G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090240G>A , CM000663.2:g.197090240G>A	GRCh38
NC_000001.10:g.197059370G>A , CM000663.1:g.197059370G>A	GRCh37
NC_000001.9:g.195325993G>A	NCBI36
NG_015867.1:g.61455C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3072C>T
ENST00000367409.9:c.9785C>T MANE Select	ENSP00000356379.4:p.Thr3262Ile
ENST00000680265.1:c.10007C>T	ENSP00000505384.1:p.Thr3336Ile
ENST00000680710.1:c.9761C>T	ENSP00000506676.1:p.Thr3254Ile
ENST00000294732.11:c.5030C>T	ENSP00000294732.7:p.Thr1677Ile
ENST00000367408.5:c.2780C>T	ENSP00000356378.1:p.Thr927Ile
ENST00000367409.8:c.9785C>T	ENSP00000356379.4:p.Thr3262Ile
ENST00000612785.1:c.3743C>T	ENSP00000479244.1:p.Thr1248Ile
NM_001206846.1:c.5030C>T	NP_001193775.1:p.Thr1677Ile
NM_018136.4:c.9785C>T	NP_060606.3:p.Thr3262Ile
NM_018136.5:c.9785C>T MANE Select	NP_060606.3:p.Thr3262Ile
NM_001206846.2:c.5030C>T	NP_001193775.1:p.Thr1677Ile