Canonical Allele Identifier: CA344018934

Gene: ASPM

Linked Data

• dbSNP Id: rs1207607899
• gnomAD v3: 1-197143435-C-G
• gnomAD v4: 1-197143435-C-G
• MyVariant Identifiers: chr1:g.197112565C>G (hg19) ; chr1:g.197143435C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143435C>G , CM000663.2:g.197143435C>G	GRCh38
NC_000001.10:g.197112565C>G , CM000663.1:g.197112565C>G	GRCh37
NC_000001.9:g.195379188C>G	NCBI36
NG_015867.1:g.8260G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.817G>C MANE Select	ENSP00000356379.4:p.Glu273Gln
ENST00000679766.1:n.1034G>C
ENST00000680265.1:c.817G>C	ENSP00000505384.1:p.Glu273Gln
ENST00000680710.1:c.817G>C	ENSP00000506676.1:p.Glu273Gln
ENST00000681879.1:c.817G>C	ENSP00000505363.1:p.Glu273Gln
ENST00000294732.11:c.817G>C	ENSP00000294732.7:p.Glu273Gln
ENST00000367409.8:c.817G>C	ENSP00000356379.4:p.Glu273Gln
ENST00000612785.1:c.561+256G>C	ENSP00000479244.1:n.561+256G>C
NM_001206846.1:c.817G>C	NP_001193775.1:p.Glu273Gln
NM_018136.4:c.817G>C	NP_060606.3:p.Glu273Gln
NM_018136.5:c.817G>C MANE Select	NP_060606.3:p.Glu273Gln
NM_001206846.2:c.817G>C	NP_001193775.1:p.Glu273Gln