Canonical Allele Identifier: CA343998711

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057543G>C (hg19) ; chr1:g.197088413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088413G>C , CM000663.2:g.197088413G>C	GRCh38
NC_000001.10:g.197057543G>C , CM000663.1:g.197057543G>C	GRCh37
NC_000001.9:g.195324166G>C	NCBI36
NG_015867.1:g.63282C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3291C>G
ENST00000367409.9:c.10004C>G MANE Select	ENSP00000356379.4:p.Ala3335Gly
ENST00000680265.1:c.10226C>G	ENSP00000505384.1:p.Ala3409Gly
ENST00000680710.1:c.9980C>G	ENSP00000506676.1:p.Ala3327Gly
ENST00000294732.11:c.5249C>G	ENSP00000294732.7:p.Ala1750Gly
ENST00000367408.5:c.2999C>G	ENSP00000356378.1:p.Ala1000Gly
ENST00000367409.8:c.10004C>G	ENSP00000356379.4:p.Ala3335Gly
ENST00000612785.1:c.3962C>G	ENSP00000479244.1:p.Ala1321Gly
NM_001206846.1:c.5249C>G	NP_001193775.1:p.Ala1750Gly
NM_018136.4:c.10004C>G	NP_060606.3:p.Ala3335Gly
NM_018136.5:c.10004C>G MANE Select	NP_060606.3:p.Ala3335Gly
NM_001206846.2:c.5249C>G	NP_001193775.1:p.Ala1750Gly