Allele Registry

Canonical Allele Identifier: CA342239

Gene: ASPM HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.197124312A>C

GRCh37 chr1:g.197093442A>C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000020764

ClinVar Variation:

21574

dbSNP:

199422155

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124312A>C , CM000663.2:g.197124312A>C	GRCh38
NC_000001.10:g.197093442A>C , CM000663.1:g.197093442A>C	GRCh37
NC_000001.9:g.195360065A>C	NCBI36
NG_015867.1:g.27383T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1230T>G
ENST00000367409.9:c.3188T>G MANE Select	ENSP00000356379.4:p.Leu1063Ter
ENST00000680112.1:n.1244T>G
ENST00000680265.1:c.3188T>G	ENSP00000505384.1:p.Leu1063Ter
ENST00000680710.1:c.3188T>G	ENSP00000506676.1:p.Leu1063Ter
ENST00000681879.1:c.3188T>G	ENSP00000505363.1:p.Leu1063Ter
ENST00000294732.11:c.3188T>G	ENSP00000294732.7:p.Leu1063Ter
ENST00000367408.5:c.938T>G	ENSP00000356378.1:p.Leu313Ter
ENST00000367409.8:c.3188T>G	ENSP00000356379.4:p.Leu1063Ter
ENST00000612785.1:c.561+19379T>G	ENSP00000479244.1:n.561+19379T>G
NM_001206846.1:c.3188T>G	NP_001193775.1:p.Leu1063Ter
NM_018136.4:c.3188T>G	NP_060606.3:p.Leu1063Ter
NM_018136.5:c.3188T>G MANE Select	NP_060606.3:p.Leu1063Ter
NM_001206846.2:c.3188T>G	NP_001193775.1:p.Leu1063Ter

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