Canonical Allele Identifier: CA1308791

Gene: ASPM

Linked Data

• dbSNP Id: rs759672320
• ExAC: 1:197057403 T / A
• gnomAD v2: 1-197057403-T-A
• gnomAD v4: 1-197088273-T-A
• COSMIC: COSM6060744
• MyVariant Identifiers: chr1:g.197057403T>A (hg19) ; chr1:g.197088273T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088273T>A , CM000663.2:g.197088273T>A	GRCh38
NC_000001.10:g.197057403T>A , CM000663.1:g.197057403T>A	GRCh37
NC_000001.9:g.195324026T>A	NCBI36
NG_015867.1:g.63422A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3431A>T
ENST00000367409.9:c.10144A>T MANE Select	ENSP00000356379.4:p.Thr3382Ser
ENST00000680265.1:c.10366A>T	ENSP00000505384.1:p.Thr3456Ser
ENST00000680710.1:c.10120A>T	ENSP00000506676.1:p.Thr3374Ser
ENST00000294732.11:c.5389A>T	ENSP00000294732.7:p.Thr1797Ser
ENST00000367408.5:c.3139A>T	ENSP00000356378.1:p.Thr1047Ser
ENST00000367409.8:c.10144A>T	ENSP00000356379.4:p.Thr3382Ser
ENST00000612785.1:c.4102A>T	ENSP00000479244.1:p.Thr1368Ser
NM_001206846.1:c.5389A>T	NP_001193775.1:p.Thr1797Ser
NM_018136.4:c.10144A>T	NP_060606.3:p.Thr3382Ser
NM_018136.5:c.10144A>T MANE Select	NP_060606.3:p.Thr3382Ser
NM_001206846.2:c.5389A>T	NP_001193775.1:p.Thr1797Ser