Canonical Allele Identifier: CA2649662721

Gene: ASPM

Linked Data

• gnomAD v4: 1-197128714-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197128714C>A , CM000663.2:g.197128714C>A	GRCh38
NC_000001.10:g.197097844C>A , CM000663.1:g.197097844C>A	GRCh37
NC_000001.9:g.195364467C>A	NCBI36
NG_015867.1:g.22981G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.664G>T
ENST00000367409.9:c.2761-49G>T MANE Select	ENSP00000356379.4:n.2761-49G>T
ENST00000680112.1:n.817-49G>T
ENST00000680265.1:c.2761-49G>T	ENSP00000505384.1:n.2761-49G>T
ENST00000680710.1:c.2761-49G>T	ENSP00000506676.1:n.2761-49G>T
ENST00000681879.1:c.2761-49G>T	ENSP00000505363.1:n.2761-49G>T
ENST00000294732.11:c.2761-49G>T	ENSP00000294732.7:n.2761-49G>T
ENST00000367408.5:c.511-49G>T	ENSP00000356378.1:n.511-49G>T
ENST00000367409.8:c.2761-49G>T	ENSP00000356379.4:n.2761-49G>T
ENST00000612785.1:c.561+14977G>T	ENSP00000479244.1:n.561+14977G>T
NM_001206846.1:c.2761-49G>T	NP_001193775.1:n.2761-49G>T
NM_018136.4:c.2761-49G>T	NP_060606.3:n.2761-49G>T
NM_018136.5:c.2761-49G>T MANE Select	NP_060606.3:n.2761-49G>T
NM_001206846.2:c.2761-49G>T	NP_001193775.1:n.2761-49G>T