Canonical Allele Identifier: CA344003330

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060120T>A (hg19) ; chr1:g.197090990T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090990T>A , CM000663.2:g.197090990T>A	GRCh38
NC_000001.10:g.197060120T>A , CM000663.1:g.197060120T>A	GRCh37
NC_000001.9:g.195326743T>A	NCBI36
NG_015867.1:g.60705A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2783A>T
ENST00000367409.9:c.9496A>T MANE Select	ENSP00000356379.4:p.Ser3166Cys
ENST00000680265.1:c.9718A>T	ENSP00000505384.1:p.Ser3240Cys
ENST00000680710.1:c.9472A>T	ENSP00000506676.1:p.Ser3158Cys
ENST00000294732.11:c.4741A>T	ENSP00000294732.7:p.Ser1581Cys
ENST00000367408.5:c.2491A>T	ENSP00000356378.1:p.Ser831Cys
ENST00000367409.8:c.9496A>T	ENSP00000356379.4:p.Ser3166Cys
ENST00000612785.1:c.3454A>T	ENSP00000479244.1:p.Ser1152Cys
NM_001206846.1:c.4741A>T	NP_001193775.1:p.Ser1581Cys
NM_018136.4:c.9496A>T	NP_060606.3:p.Ser3166Cys
NM_018136.5:c.9496A>T MANE Select	NP_060606.3:p.Ser3166Cys
NM_001206846.2:c.4741A>T	NP_001193775.1:p.Ser1581Cys