Canonical Allele Identifier: CA1308925

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090933C>G , CM000663.2:g.197090933C>G	GRCh38
NC_000001.10:g.197060063C>G , CM000663.1:g.197060063C>G	GRCh37
NC_000001.9:g.195326686C>G	NCBI36
NG_015867.1:g.60762G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.9553G>C MANE Select	NP_060606.3:p.Ala3185Pro
ENST00000367409.9:c.9553G>C MANE Select	ENSP00000356379.4:p.Ala3185Pro
NM_001206846.1:c.4798G>C	NP_001193775.1:p.Ala1600Pro
NM_001206846.2:c.4798G>C	NP_001193775.1:p.Ala1600Pro
NM_018136.4:c.9553G>C	NP_060606.3:p.Ala3185Pro
ENST00000294732.11:c.4798G>C	ENSP00000294732.7:p.Ala1600Pro
ENST00000367408.5:c.2548G>C	ENSP00000356378.1:p.Ala850Pro
ENST00000367408.6:n.2840G>C
ENST00000367409.8:c.9553G>C	ENSP00000356379.4:p.Ala3185Pro
ENST00000612785.1:c.3511G>C	ENSP00000479244.1:p.Ala1171Pro
ENST00000680265.1:c.9775G>C	ENSP00000505384.1:p.Ala3259Pro
ENST00000680710.1:c.9529G>C	ENSP00000506676.1:p.Ala3177Pro