Canonical Allele Identifier: CA344003693

Gene: ASPM

Linked Data

• COSMIC: COSM901647
• MyVariant Identifiers: chr1:g.197060155C>A (hg19) ; chr1:g.197091025C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091025C>A , CM000663.2:g.197091025C>A	GRCh38
NC_000001.10:g.197060155C>A , CM000663.1:g.197060155C>A	GRCh37
NC_000001.9:g.195326778C>A	NCBI36
NG_015867.1:g.60670G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2748G>T
ENST00000367409.9:c.9461G>T MANE Select	ENSP00000356379.4:p.Arg3154Ile
ENST00000680265.1:c.9683G>T	ENSP00000505384.1:p.Arg3228Ile
ENST00000680710.1:c.9437G>T	ENSP00000506676.1:p.Arg3146Ile
ENST00000294732.11:c.4706G>T	ENSP00000294732.7:p.Arg1569Ile
ENST00000367408.5:c.2456G>T	ENSP00000356378.1:p.Arg819Ile
ENST00000367409.8:c.9461G>T	ENSP00000356379.4:p.Arg3154Ile
ENST00000612785.1:c.3419G>T	ENSP00000479244.1:p.Arg1140Ile
NM_001206846.1:c.4706G>T	NP_001193775.1:p.Arg1569Ile
NM_018136.4:c.9461G>T	NP_060606.3:p.Arg3154Ile
NM_018136.5:c.9461G>T MANE Select	NP_060606.3:p.Arg3154Ile
NM_001206846.2:c.4706G>T	NP_001193775.1:p.Arg1569Ile