Canonical Allele Identifier: CA344018843

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2066701
• ClinVar RCV Id: RCV002943482
• MyVariant Identifiers: chr1:g.197070917C>A (hg19) ; chr1:g.197101787C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101787C>A , CM000663.2:g.197101787C>A	GRCh38
NC_000001.10:g.197070917C>A , CM000663.1:g.197070917C>A	GRCh37
NC_000001.9:g.195337540C>A	NCBI36
NG_015867.1:g.49908G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5623G>T
ENST00000367409.9:c.7464G>T MANE Select	ENSP00000356379.4:p.Gln2488His
ENST00000680265.1:c.7464G>T	ENSP00000505384.1:p.Gln2488His
ENST00000680710.1:c.7464G>T	ENSP00000506676.1:p.Gln2488His
ENST00000294732.11:c.4066-5623G>T	ENSP00000294732.7:n.4066-5623G>T
ENST00000367408.5:c.1816-5623G>T	ENSP00000356378.1:n.1816-5623G>T
ENST00000367409.8:c.7464G>T	ENSP00000356379.4:p.Gln2488His
ENST00000612785.1:c.1422G>T	ENSP00000479244.1:p.Gln474His
NM_001206846.1:c.4066-5623G>T	NP_001193775.1:n.4066-5623G>T
NM_018136.4:c.7464G>T	NP_060606.3:p.Gln2488His
NM_018136.5:c.7464G>T MANE Select	NP_060606.3:p.Gln2488His
NM_001206846.2:c.4066-5623G>T	NP_001193775.1:n.4066-5623G>T