Canonical Allele Identifier: CA344001900

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059464C>G (hg19) ; chr1:g.197090334C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090334C>G , CM000663.2:g.197090334C>G	GRCh38
NC_000001.10:g.197059464C>G , CM000663.1:g.197059464C>G	GRCh37
NC_000001.9:g.195326087C>G	NCBI36
NG_015867.1:g.61361G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2978G>C
ENST00000367409.9:c.9691G>C MANE Select	ENSP00000356379.4:p.Ala3231Pro
ENST00000680265.1:c.9913G>C	ENSP00000505384.1:p.Ala3305Pro
ENST00000680710.1:c.9667G>C	ENSP00000506676.1:p.Ala3223Pro
ENST00000294732.11:c.4936G>C	ENSP00000294732.7:p.Ala1646Pro
ENST00000367408.5:c.2686G>C	ENSP00000356378.1:p.Ala896Pro
ENST00000367409.8:c.9691G>C	ENSP00000356379.4:p.Ala3231Pro
ENST00000612785.1:c.3649G>C	ENSP00000479244.1:p.Ala1217Pro
NM_001206846.1:c.4936G>C	NP_001193775.1:p.Ala1646Pro
NM_018136.4:c.9691G>C	NP_060606.3:p.Ala3231Pro
NM_018136.5:c.9691G>C MANE Select	NP_060606.3:p.Ala3231Pro
NM_001206846.2:c.4936G>C	NP_001193775.1:p.Ala1646Pro