Canonical Allele Identifier: CA35861898

Gene: ASPM

Linked Data

• dbSNP Id: rs768236855
• gnomAD v4: 1-197090157-G-A
• MyVariant Identifiers: chr1:g.197059287G>A (hg19) ; chr1:g.197090157G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090157G>A , CM000663.2:g.197090157G>A	GRCh38
NC_000001.10:g.197059287G>A , CM000663.1:g.197059287G>A	GRCh37
NC_000001.9:g.195325910G>A	NCBI36
NG_015867.1:g.61538C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3116+39C>T
ENST00000367409.9:c.9829+39C>T MANE Select	ENSP00000356379.4:n.9829+39C>T
ENST00000680265.1:c.10051+39C>T	ENSP00000505384.1:n.10051+39C>T
ENST00000680710.1:c.9805+39C>T	ENSP00000506676.1:n.9805+39C>T
ENST00000294732.11:c.5074+39C>T	ENSP00000294732.7:n.5074+39C>T
ENST00000367408.5:c.2824+39C>T	ENSP00000356378.1:n.2824+39C>T
ENST00000367409.8:c.9829+39C>T	ENSP00000356379.4:n.9829+39C>T
ENST00000612785.1:c.3787+39C>T	ENSP00000479244.1:n.3787+39C>T
NM_001206846.1:c.5074+39C>T	NP_001193775.1:n.5074+39C>T
NM_018136.4:c.9829+39C>T	NP_060606.3:n.9829+39C>T
NM_018136.5:c.9829+39C>T MANE Select	NP_060606.3:n.9829+39C>T
NM_001206846.2:c.5074+39C>T	NP_001193775.1:n.5074+39C>T