Canonical Allele Identifier: CA344001698

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059367T>G (hg19) ; chr1:g.197090237T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090237T>G , CM000663.2:g.197090237T>G	GRCh38
NC_000001.10:g.197059367T>G , CM000663.1:g.197059367T>G	GRCh37
NC_000001.9:g.195325990T>G	NCBI36
NG_015867.1:g.61458A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3075A>C
ENST00000367409.9:c.9788A>C MANE Select	ENSP00000356379.4:p.Tyr3263Ser
ENST00000680265.1:c.10010A>C	ENSP00000505384.1:p.Tyr3337Ser
ENST00000680710.1:c.9764A>C	ENSP00000506676.1:p.Tyr3255Ser
ENST00000294732.11:c.5033A>C	ENSP00000294732.7:p.Tyr1678Ser
ENST00000367408.5:c.2783A>C	ENSP00000356378.1:p.Tyr928Ser
ENST00000367409.8:c.9788A>C	ENSP00000356379.4:p.Tyr3263Ser
ENST00000612785.1:c.3746A>C	ENSP00000479244.1:p.Tyr1249Ser
NM_001206846.1:c.5033A>C	NP_001193775.1:p.Tyr1678Ser
NM_018136.4:c.9788A>C	NP_060606.3:p.Tyr3263Ser
NM_018136.5:c.9788A>C MANE Select	NP_060606.3:p.Tyr3263Ser
NM_001206846.2:c.5033A>C	NP_001193775.1:p.Tyr1678Ser