Canonical Allele Identifier: CA1308990

Gene: ASPM

Linked Data

• dbSNP Id: rs748727275
• ExAC: 1:197062156 G / A
• gnomAD v2: 1-197062156-G-A
• gnomAD v4: 1-197093026-G-A
• MyVariant Identifiers: chr1:g.197062156G>A (hg19) ; chr1:g.197062156_197062157delinsAA (hg19) ; chr1:g.197093026G>A (hg38) ; chr1:g.197093026_197093027delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093026G>A , CM000663.2:g.197093026G>A	GRCh38
NC_000001.10:g.197062156G>A , CM000663.1:g.197062156G>A	GRCh37
NC_000001.9:g.195328779G>A	NCBI36
NG_015867.1:g.58669C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2581+26C>T
ENST00000367409.9:c.9294+26C>T MANE Select	ENSP00000356379.4:n.9294+26C>T
ENST00000680265.1:c.9516+26C>T	ENSP00000505384.1:n.9516+26C>T
ENST00000680710.1:c.9294+26C>T	ENSP00000506676.1:n.9294+26C>T
ENST00000294732.11:c.4539+26C>T	ENSP00000294732.7:n.4539+26C>T
ENST00000367408.5:c.2289+26C>T	ENSP00000356378.1:n.2289+26C>T
ENST00000367409.8:c.9294+26C>T	ENSP00000356379.4:n.9294+26C>T
ENST00000612785.1:c.3252+26C>T	ENSP00000479244.1:n.3252+26C>T
NM_001206846.1:c.4539+26C>T	NP_001193775.1:n.4539+26C>T
NM_018136.4:c.9294+26C>T	NP_060606.3:n.9294+26C>T
NM_018136.5:c.9294+26C>T MANE Select	NP_060606.3:n.9294+26C>T
NM_001206846.2:c.4539+26C>T	NP_001193775.1:n.4539+26C>T