Canonical Allele Identifier: CA344048050

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197097618A>C (hg19) ; chr1:g.197128488A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197128488A>C , CM000663.2:g.197128488A>C	GRCh38
NC_000001.10:g.197097618A>C , CM000663.1:g.197097618A>C	GRCh37
NC_000001.9:g.195364241A>C	NCBI36
NG_015867.1:g.23207T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.888+2T>G
ENST00000367409.9:c.2936+2T>G MANE Select	ENSP00000356379.4:n.2936+2T>G
ENST00000680112.1:n.992+2T>G
ENST00000680265.1:c.2936+2T>G	ENSP00000505384.1:n.2936+2T>G
ENST00000680710.1:c.2936+2T>G	ENSP00000506676.1:n.2936+2T>G
ENST00000681879.1:c.2936+2T>G	ENSP00000505363.1:n.2936+2T>G
ENST00000294732.11:c.2936+2T>G	ENSP00000294732.7:n.2936+2T>G
ENST00000367408.5:c.686+2T>G	ENSP00000356378.1:n.686+2T>G
ENST00000367409.8:c.2936+2T>G	ENSP00000356379.4:n.2936+2T>G
ENST00000612785.1:c.561+15203T>G	ENSP00000479244.1:n.561+15203T>G
NM_001206846.1:c.2936+2T>G	NP_001193775.1:n.2936+2T>G
NM_018136.4:c.2936+2T>G	NP_060606.3:n.2936+2T>G
NM_018136.5:c.2936+2T>G MANE Select	NP_060606.3:n.2936+2T>G
NM_001206846.2:c.2936+2T>G	NP_001193775.1:n.2936+2T>G