Canonical Allele Identifier: CA344039440

Gene: ASPM

Linked Data

• dbSNP Id: rs1480443512
• gnomAD v2: 1-197091352-G-T
• MyVariant Identifiers: chr1:g.197091352G>T (hg19) ; chr1:g.197122222G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122222G>T , CM000663.2:g.197122222G>T	GRCh38
NC_000001.10:g.197091352G>T , CM000663.1:g.197091352G>T	GRCh37
NC_000001.9:g.195357975G>T	NCBI36
NG_015867.1:g.29473C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1720C>A
ENST00000367409.9:c.3678C>A MANE Select	ENSP00000356379.4:p.Asp1226Glu
ENST00000680112.1:n.1734C>A
ENST00000680265.1:c.3678C>A	ENSP00000505384.1:p.Asp1226Glu
ENST00000680710.1:c.3678C>A	ENSP00000506676.1:p.Asp1226Glu
ENST00000681879.1:c.3678C>A	ENSP00000505363.1:p.Asp1226Glu
ENST00000294732.11:c.3678C>A	ENSP00000294732.7:p.Asp1226Glu
ENST00000367408.5:c.1428C>A	ENSP00000356378.1:p.Asp476Glu
ENST00000367409.8:c.3678C>A	ENSP00000356379.4:p.Asp1226Glu
ENST00000612785.1:c.562-19575C>A	ENSP00000479244.1:n.562-19575C>A
NM_001206846.1:c.3678C>A	NP_001193775.1:p.Asp1226Glu
NM_018136.4:c.3678C>A	NP_060606.3:p.Asp1226Glu
NM_018136.5:c.3678C>A MANE Select	NP_060606.3:p.Asp1226Glu
NM_001206846.2:c.3678C>A	NP_001193775.1:p.Asp1226Glu