Canonical Allele Identifier: CA35860950

Gene: ASPM

Linked Data

• dbSNP Id: rs183282274
• gnomAD v2: 1-197057172-T-C
• gnomAD v3: 1-197088042-T-C
• gnomAD v4: 1-197088042-T-C
• MyVariant Identifiers: chr1:g.197057172T>C (hg19) ; chr1:g.197088042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088042T>C , CM000663.2:g.197088042T>C	GRCh38
NC_000001.10:g.197057172T>C , CM000663.1:g.197057172T>C	GRCh37
NC_000001.9:g.195323795T>C	NCBI36
NG_015867.1:g.63653A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3448+214A>G
ENST00000367409.9:c.10161+214A>G MANE Select	ENSP00000356379.4:n.10161+214A>G
ENST00000680265.1:c.10383+214A>G	ENSP00000505384.1:n.10383+214A>G
ENST00000680710.1:c.10137+214A>G	ENSP00000506676.1:n.10137+214A>G
ENST00000294732.11:c.5406+214A>G	ENSP00000294732.7:n.5406+214A>G
ENST00000367408.5:c.3156+214A>G	ENSP00000356378.1:n.3156+214A>G
ENST00000367409.8:c.10161+214A>G	ENSP00000356379.4:n.10161+214A>G
NM_001206846.1:c.5406+214A>G	NP_001193775.1:n.5406+214A>G
NM_018136.4:c.10161+214A>G	NP_060606.3:n.10161+214A>G
NM_018136.5:c.10161+214A>G MANE Select	NP_060606.3:n.10161+214A>G
NM_001206846.2:c.5406+214A>G	NP_001193775.1:n.5406+214A>G