Canonical Allele Identifier: CA344036117

Gene: ASPM

Linked Data

• dbSNP Id: rs1657784218
• gnomAD v4: 1-197117799-G-A
• COSMIC: COSM5527026
• MyVariant Identifiers: chr1:g.197086929G>A (hg19) ; chr1:g.197117799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197117799G>A , CM000663.2:g.197117799G>A	GRCh38
NC_000001.10:g.197086929G>A , CM000663.1:g.197086929G>A	GRCh37
NC_000001.9:g.195353552G>A	NCBI36
NG_015867.1:g.33896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2097C>T
ENST00000367409.9:c.4055C>T MANE Select	ENSP00000356379.4:p.Ser1352Leu
ENST00000680265.1:c.4055C>T	ENSP00000505384.1:p.Ser1352Leu
ENST00000680710.1:c.4055C>T	ENSP00000506676.1:p.Ser1352Leu
ENST00000681879.1:c.4103C>T	ENSP00000505363.1:n.4103C>T
ENST00000294732.11:c.4055C>T	ENSP00000294732.7:p.Ser1352Leu
ENST00000367408.5:c.1805C>T	ENSP00000356378.1:p.Ser602Leu
ENST00000367409.8:c.4055C>T	ENSP00000356379.4:p.Ser1352Leu
ENST00000612785.1:c.562-15152C>T	ENSP00000479244.1:n.562-15152C>T
NM_001206846.1:c.4055C>T	NP_001193775.1:p.Ser1352Leu
NM_018136.4:c.4055C>T	NP_060606.3:p.Ser1352Leu
NM_018136.5:c.4055C>T MANE Select	NP_060606.3:p.Ser1352Leu
NM_001206846.2:c.4055C>T	NP_001193775.1:p.Ser1352Leu