Canonical Allele Identifier: CA171201

Gene: ASPM

Linked Data

• ClinVar Variation Id: 157807
• ClinVar RCV Id: RCV000145116
• dbSNP Id: rs587783233
• MyVariant Identifiers: chr1:g.197091316A>G (hg19) ; chr1:g.197122186A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122186A>G , CM000663.2:g.197122186A>G	GRCh38
NC_000001.10:g.197091316A>G , CM000663.1:g.197091316A>G	GRCh37
NC_000001.9:g.195357939A>G	NCBI36
NG_015867.1:g.29509T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1756T>C
ENST00000367409.9:c.3714T>C MANE Select	ENSP00000356379.4:p.Asp1238=
ENST00000680112.1:n.1770T>C
ENST00000680265.1:c.3714T>C	ENSP00000505384.1:p.Asp1238=
ENST00000680710.1:c.3714T>C	ENSP00000506676.1:p.Asp1238=
ENST00000681879.1:c.3714T>C	ENSP00000505363.1:p.Asp1238=
ENST00000294732.11:c.3714T>C	ENSP00000294732.7:p.Asp1238=
ENST00000367408.5:c.1464T>C	ENSP00000356378.1:p.Asp488=
ENST00000367409.8:c.3714T>C	ENSP00000356379.4:p.Asp1238=
ENST00000612785.1:c.562-19539T>C	ENSP00000479244.1:n.562-19539T>C
NM_001206846.1:c.3714T>C	NP_001193775.1:p.Asp1238=
NM_018136.4:c.3714T>C	NP_060606.3:p.Asp1238=
NM_018136.5:c.3714T>C MANE Select	NP_060606.3:p.Asp1238=
NM_001206846.2:c.3714T>C	NP_001193775.1:p.Asp1238=