Canonical Allele Identifier: CA344007600

Gene: ASPM

Linked Data

• dbSNP Id: rs1656845136
• MyVariant Identifiers: chr1:g.197062348T>C (hg19) ; chr1:g.197093218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093218T>C , CM000663.2:g.197093218T>C	GRCh38
NC_000001.10:g.197062348T>C , CM000663.1:g.197062348T>C	GRCh37
NC_000001.9:g.195328971T>C	NCBI36
NG_015867.1:g.58477A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2415A>G
ENST00000367409.9:c.9128A>G MANE Select	ENSP00000356379.4:p.Tyr3043Cys
ENST00000680265.1:c.9350A>G	ENSP00000505384.1:p.Tyr3117Cys
ENST00000680710.1:c.9128A>G	ENSP00000506676.1:p.Tyr3043Cys
ENST00000294732.11:c.4373A>G	ENSP00000294732.7:p.Tyr1458Cys
ENST00000367408.5:c.2123A>G	ENSP00000356378.1:p.Tyr708Cys
ENST00000367409.8:c.9128A>G	ENSP00000356379.4:p.Tyr3043Cys
ENST00000612785.1:c.3086A>G	ENSP00000479244.1:p.Tyr1029Cys
NM_001206846.1:c.4373A>G	NP_001193775.1:p.Tyr1458Cys
NM_018136.4:c.9128A>G	NP_060606.3:p.Tyr3043Cys
NM_018136.5:c.9128A>G MANE Select	NP_060606.3:p.Tyr3043Cys
NM_001206846.2:c.4373A>G	NP_001193775.1:p.Tyr1458Cys