Canonical Allele Identifier: CA344002385

Gene: ASPM

Linked Data

• dbSNP Id: rs1354927884
• gnomAD v2: 1-197060007-T-A
• gnomAD v4: 1-197090877-T-A
• MyVariant Identifiers: chr1:g.197060007T>A (hg19) ; chr1:g.197090877T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090877T>A , CM000663.2:g.197090877T>A	GRCh38
NC_000001.10:g.197060007T>A , CM000663.1:g.197060007T>A	GRCh37
NC_000001.9:g.195326630T>A	NCBI36
NG_015867.1:g.60818A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2896A>T
ENST00000367409.9:c.9609A>T MANE Select	ENSP00000356379.4:p.Lys3203Asn
ENST00000680265.1:c.9831A>T	ENSP00000505384.1:p.Lys3277Asn
ENST00000680710.1:c.9585A>T	ENSP00000506676.1:p.Lys3195Asn
ENST00000294732.11:c.4854A>T	ENSP00000294732.7:p.Lys1618Asn
ENST00000367408.5:c.2604A>T	ENSP00000356378.1:p.Lys868Asn
ENST00000367409.8:c.9609A>T	ENSP00000356379.4:p.Lys3203Asn
ENST00000612785.1:c.3567A>T	ENSP00000479244.1:p.Lys1189Asn
NM_001206846.1:c.4854A>T	NP_001193775.1:p.Lys1618Asn
NM_018136.4:c.9609A>T	NP_060606.3:p.Lys3203Asn
NM_018136.5:c.9609A>T MANE Select	NP_060606.3:p.Lys3203Asn
NM_001206846.2:c.4854A>T	NP_001193775.1:p.Lys1618Asn