Canonical Allele Identifier: CA422672406

Gene: ASPM

Linked Data

• dbSNP Id: rs1289838238
• gnomAD v3: 1-197090871-A-G
• gnomAD v4: 1-197090871-A-G
• MyVariant Identifiers: chr1:g.197060001A>G (hg19) ; chr1:g.197090871A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090871A>G , CM000663.2:g.197090871A>G	GRCh38
NC_000001.10:g.197060001A>G , CM000663.1:g.197060001A>G	GRCh37
NC_000001.9:g.195326624A>G	NCBI36
NG_015867.1:g.60824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2902T>C
ENST00000367409.9:c.9615T>C MANE Select	ENSP00000356379.4:p.Thr3205=
ENST00000680265.1:c.9837T>C	ENSP00000505384.1:p.Thr3279=
ENST00000680710.1:c.9591T>C	ENSP00000506676.1:p.Thr3197=
ENST00000294732.11:c.4860T>C	ENSP00000294732.7:p.Thr1620=
ENST00000367408.5:c.2610T>C	ENSP00000356378.1:p.Thr870=
ENST00000367409.8:c.9615T>C	ENSP00000356379.4:p.Thr3205=
ENST00000612785.1:c.3573T>C	ENSP00000479244.1:p.Thr1191=
NM_001206846.1:c.4860T>C	NP_001193775.1:p.Thr1620=
NM_018136.4:c.9615T>C	NP_060606.3:p.Thr3205=
NM_018136.5:c.9615T>C MANE Select	NP_060606.3:p.Thr3205=
NM_001206846.2:c.4860T>C	NP_001193775.1:p.Thr1620=