Canonical Allele Identifier: CA344027678

Gene: ASPM

Linked Data

• dbSNP Id: rs1657318694
• gnomAD v3: 1-197104171-T-C
• gnomAD v4: 1-197104171-T-C
• MyVariant Identifiers: chr1:g.197073301T>C (hg19) ; chr1:g.197104171T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104171T>C , CM000663.2:g.197104171T>C	GRCh38
NC_000001.10:g.197073301T>C , CM000663.1:g.197073301T>C	GRCh37
NC_000001.9:g.195339924T>C	NCBI36
NG_015867.1:g.47524A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8007A>G
ENST00000367409.9:c.5080A>G MANE Select	ENSP00000356379.4:p.Thr1694Ala
ENST00000680265.1:c.5080A>G	ENSP00000505384.1:p.Thr1694Ala
ENST00000680710.1:c.5080A>G	ENSP00000506676.1:p.Thr1694Ala
ENST00000294732.11:c.4066-8007A>G	ENSP00000294732.7:n.4066-8007A>G
ENST00000367408.5:c.1816-8007A>G	ENSP00000356378.1:n.1816-8007A>G
ENST00000367409.8:c.5080A>G	ENSP00000356379.4:p.Thr1694Ala
ENST00000612785.1:c.562-1524A>G	ENSP00000479244.1:n.562-1524A>G
NM_001206846.1:c.4066-8007A>G	NP_001193775.1:n.4066-8007A>G
NM_018136.4:c.5080A>G	NP_060606.3:p.Thr1694Ala
NM_018136.5:c.5080A>G MANE Select	NP_060606.3:p.Thr1694Ala
NM_001206846.2:c.4066-8007A>G	NP_001193775.1:n.4066-8007A>G