Canonical Allele Identifier: CA344001961

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059485T>G (hg19) ; chr1:g.197090355T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090355T>G , CM000663.2:g.197090355T>G	GRCh38
NC_000001.10:g.197059485T>G , CM000663.1:g.197059485T>G	GRCh37
NC_000001.9:g.195326108T>G	NCBI36
NG_015867.1:g.61340A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2957A>C
ENST00000367409.9:c.9670A>C MANE Select	ENSP00000356379.4:p.Asn3224His
ENST00000680265.1:c.9892A>C	ENSP00000505384.1:p.Asn3298His
ENST00000680710.1:c.9646A>C	ENSP00000506676.1:p.Asn3216His
ENST00000294732.11:c.4915A>C	ENSP00000294732.7:p.Asn1639His
ENST00000367408.5:c.2665A>C	ENSP00000356378.1:p.Asn889His
ENST00000367409.8:c.9670A>C	ENSP00000356379.4:p.Asn3224His
ENST00000612785.1:c.3628A>C	ENSP00000479244.1:p.Asn1210His
NM_001206846.1:c.4915A>C	NP_001193775.1:p.Asn1639His
NM_018136.4:c.9670A>C	NP_060606.3:p.Asn3224His
NM_018136.5:c.9670A>C MANE Select	NP_060606.3:p.Asn3224His
NM_001206846.2:c.4915A>C	NP_001193775.1:p.Asn1639His