Canonical Allele Identifier: CA344001695

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1073107
• ClinVar RCV Id: RCV001385993
• dbSNP Id: rs199422198
• MyVariant Identifiers: chr1:g.197059366A>C (hg19) ; chr1:g.197090236A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090236A>C , CM000663.2:g.197090236A>C	GRCh38
NC_000001.10:g.197059366A>C , CM000663.1:g.197059366A>C	GRCh37
NC_000001.9:g.195325989A>C	NCBI36
NG_015867.1:g.61459T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3076T>G
ENST00000367409.9:c.9789T>G MANE Select	ENSP00000356379.4:p.Tyr3263Ter
ENST00000680265.1:c.10011T>G	ENSP00000505384.1:p.Tyr3337Ter
ENST00000680710.1:c.9765T>G	ENSP00000506676.1:p.Tyr3255Ter
ENST00000294732.11:c.5034T>G	ENSP00000294732.7:p.Tyr1678Ter
ENST00000367408.5:c.2784T>G	ENSP00000356378.1:p.Tyr928Ter
ENST00000367409.8:c.9789T>G	ENSP00000356379.4:p.Tyr3263Ter
ENST00000612785.1:c.3747T>G	ENSP00000479244.1:p.Tyr1249Ter
NM_001206846.1:c.5034T>G	NP_001193775.1:p.Tyr1678Ter
NM_018136.4:c.9789T>G	NP_060606.3:p.Tyr3263Ter
NM_018136.5:c.9789T>G MANE Select	NP_060606.3:p.Tyr3263Ter
NM_001206846.2:c.5034T>G	NP_001193775.1:p.Tyr1678Ter