Canonical Allele Identifier: CA1309466

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102206T>G , CM000663.2:g.197102206T>G	GRCh38
NC_000001.10:g.197071336T>G , CM000663.1:g.197071336T>G	GRCh37
NC_000001.9:g.195337959T>G	NCBI36
NG_015867.1:g.49489A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.7045A>C MANE Select	NP_060606.3:p.Arg2349=
ENST00000367409.9:c.7045A>C MANE Select	ENSP00000356379.4:p.Arg2349=
NM_001206846.1:c.4066-6042A>C	NP_001193775.1:n.4066-6042A>C
NM_001206846.2:c.4066-6042A>C	NP_001193775.1:n.4066-6042A>C
NM_018136.4:c.7045A>C	NP_060606.3:p.Arg2349=
ENST00000294732.11:c.4066-6042A>C	ENSP00000294732.7:n.4066-6042A>C
ENST00000367408.5:c.1816-6042A>C	ENSP00000356378.1:n.1816-6042A>C
ENST00000367408.6:n.2108-6042A>C
ENST00000367409.8:c.7045A>C	ENSP00000356379.4:p.Arg2349=
ENST00000612785.1:c.1003A>C	ENSP00000479244.1:p.Arg335=
ENST00000680265.1:c.7045A>C	ENSP00000505384.1:p.Arg2349=
ENST00000680710.1:c.7045A>C	ENSP00000506676.1:p.Arg2349=