Canonical Allele Identifier: CA422672236

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2717691
• ClinVar RCV Id: RCV003548893
• MyVariant Identifiers: chr1:g.197057542T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088412T>G , CM000663.2:g.197088412T>G	GRCh38
NC_000001.10:g.197057542T>G , CM000663.1:g.197057542T>G	GRCh37
NC_000001.9:g.195324165T>G	NCBI36
NG_015867.1:g.63283A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3292A>C
ENST00000367409.9:c.10005A>C MANE Select	ENSP00000356379.4:p.Ala3335=
ENST00000680265.1:c.10227A>C	ENSP00000505384.1:p.Ala3409=
ENST00000680710.1:c.9981A>C	ENSP00000506676.1:p.Ala3327=
ENST00000294732.11:c.5250A>C	ENSP00000294732.7:p.Ala1750=
ENST00000367408.5:c.3000A>C	ENSP00000356378.1:p.Ala1000=
ENST00000367409.8:c.10005A>C	ENSP00000356379.4:p.Ala3335=
ENST00000612785.1:c.3963A>C	ENSP00000479244.1:p.Ala1321=
NM_001206846.1:c.5250A>C	NP_001193775.1:p.Ala1750=
NM_018136.4:c.10005A>C	NP_060606.3:p.Ala3335=
NM_018136.5:c.10005A>C MANE Select	NP_060606.3:p.Ala3335=
NM_001206846.2:c.5250A>C	NP_001193775.1:p.Ala1750=