Canonical Allele Identifier: CA344001704

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059370G>T (hg19) ; chr1:g.197090240G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3072C>A
ENST00000367409.9:c.9785C>A MANE Select	ENSP00000356379.4:p.Thr3262Lys
ENST00000680265.1:c.10007C>A	ENSP00000505384.1:p.Thr3336Lys
ENST00000680710.1:c.9761C>A	ENSP00000506676.1:p.Thr3254Lys
ENST00000294732.11:c.5030C>A	ENSP00000294732.7:p.Thr1677Lys
ENST00000367408.5:c.2780C>A	ENSP00000356378.1:p.Thr927Lys
ENST00000367409.8:c.9785C>A	ENSP00000356379.4:p.Thr3262Lys
ENST00000612785.1:c.3743C>A	ENSP00000479244.1:p.Thr1248Lys
NM_001206846.1:c.5030C>A	NP_001193775.1:p.Thr1677Lys
NM_018136.4:c.9785C>A	NP_060606.3:p.Thr3262Lys
NM_018136.5:c.9785C>A MANE Select	NP_060606.3:p.Thr3262Lys
NM_001206846.2:c.5030C>A	NP_001193775.1:p.Thr1677Lys