Canonical Allele Identifier: CA528280040

Gene: ASPM

Linked Data

• dbSNP Id: rs1177560177
• gnomAD v2: 1-197090919-C-G
• gnomAD v3: 1-197121789-C-G
• gnomAD v4: 1-197121789-C-G
• MyVariant Identifiers: chr1:g.197090919C>G (hg19) ; chr1:g.197121789C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197121789C>G , CM000663.2:g.197121789C>G	GRCh38
NC_000001.10:g.197090919C>G , CM000663.1:g.197090919C>G	GRCh37
NC_000001.9:g.195357542C>G	NCBI36
NG_015867.1:g.29906G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1912+126G>C
ENST00000367409.9:c.3870+126G>C MANE Select	ENSP00000356379.4:n.3870+126G>C
ENST00000680265.1:c.3870+126G>C	ENSP00000505384.1:n.3870+126G>C
ENST00000680710.1:c.3870+126G>C	ENSP00000506676.1:n.3870+126G>C
ENST00000681879.1:c.3918+78G>C	ENSP00000505363.1:n.3918+78G>C
ENST00000294732.11:c.3870+126G>C	ENSP00000294732.7:n.3870+126G>C
ENST00000367408.5:c.1620+126G>C	ENSP00000356378.1:n.1620+126G>C
ENST00000367409.8:c.3870+126G>C	ENSP00000356379.4:n.3870+126G>C
ENST00000612785.1:c.562-19142G>C	ENSP00000479244.1:n.562-19142G>C
NM_001206846.1:c.3870+126G>C	NP_001193775.1:n.3870+126G>C
NM_018136.4:c.3870+126G>C	NP_060606.3:n.3870+126G>C
NM_018136.5:c.3870+126G>C MANE Select	NP_060606.3:n.3870+126G>C
NM_001206846.2:c.3870+126G>C	NP_001193775.1:n.3870+126G>C