Canonical Allele Identifier: CA422805919

Gene: ASPM

Linked Data

• dbSNP Id: rs1282395871
• gnomAD v3: 1-197100749-T-C
• gnomAD v4: 1-197100749-T-C
• MyVariant Identifiers: chr1:g.197069879T>C (hg19) ; chr1:g.197100749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100749T>C , CM000663.2:g.197100749T>C	GRCh38
NC_000001.10:g.197069879T>C , CM000663.1:g.197069879T>C	GRCh37
NC_000001.9:g.195336502T>C	NCBI36
NG_015867.1:g.50946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4585A>G
ENST00000367409.9:c.8502A>G MANE Select	ENSP00000356379.4:p.Glu2834=
ENST00000680265.1:c.8502A>G	ENSP00000505384.1:p.Glu2834=
ENST00000680710.1:c.8502A>G	ENSP00000506676.1:p.Glu2834=
ENST00000294732.11:c.4066-4585A>G	ENSP00000294732.7:n.4066-4585A>G
ENST00000367408.5:c.1816-4585A>G	ENSP00000356378.1:n.1816-4585A>G
ENST00000367409.8:c.8502A>G	ENSP00000356379.4:p.Glu2834=
ENST00000612785.1:c.2460A>G	ENSP00000479244.1:p.Glu820=
NM_001206846.1:c.4066-4585A>G	NP_001193775.1:n.4066-4585A>G
NM_018136.4:c.8502A>G	NP_060606.3:p.Glu2834=
NM_018136.5:c.8502A>G MANE Select	NP_060606.3:p.Glu2834=
NM_001206846.2:c.4066-4585A>G	NP_001193775.1:n.4066-4585A>G