Canonical Allele Identifier: CA1310109

Gene: ASPM

Linked Data

• dbSNP Id: rs776528221
• ExAC: 1:197091333 T / C
• gnomAD v2: 1-197091333-T-C
• gnomAD v4: 1-197122203-T-C
• MyVariant Identifiers: chr1:g.197091333T>C (hg19) ; chr1:g.197122203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122203T>C , CM000663.2:g.197122203T>C	GRCh38
NC_000001.10:g.197091333T>C , CM000663.1:g.197091333T>C	GRCh37
NC_000001.9:g.195357956T>C	NCBI36
NG_015867.1:g.29492A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1739A>G
ENST00000367409.9:c.3697A>G MANE Select	ENSP00000356379.4:p.Met1233Val
ENST00000680112.1:n.1753A>G
ENST00000680265.1:c.3697A>G	ENSP00000505384.1:p.Met1233Val
ENST00000680710.1:c.3697A>G	ENSP00000506676.1:p.Met1233Val
ENST00000681879.1:c.3697A>G	ENSP00000505363.1:p.Met1233Val
ENST00000294732.11:c.3697A>G	ENSP00000294732.7:p.Met1233Val
ENST00000367408.5:c.1447A>G	ENSP00000356378.1:p.Met483Val
ENST00000367409.8:c.3697A>G	ENSP00000356379.4:p.Met1233Val
ENST00000612785.1:c.562-19556A>G	ENSP00000479244.1:n.562-19556A>G
NM_001206846.1:c.3697A>G	NP_001193775.1:p.Met1233Val
NM_018136.4:c.3697A>G	NP_060606.3:p.Met1233Val
NM_018136.5:c.3697A>G MANE Select	NP_060606.3:p.Met1233Val
NM_001206846.2:c.3697A>G	NP_001193775.1:p.Met1233Val