Canonical Allele Identifier: CA270991

Gene: ASPM

Linked Data

• ClinVar Variation Id: 157771
• ClinVar RCV Id: RCV000145072
• dbSNP Id: rs587783209
• ExAC: 1:197057438 G / C
• gnomAD v2: 1-197057438-G-C
• gnomAD v3: 1-197088308-G-C
• gnomAD v4: 1-197088308-G-C
• MyVariant Identifiers: chr1:g.197057438G>C (hg19) ; chr1:g.197088308G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088308G>C , CM000663.2:g.197088308G>C	GRCh38
NC_000001.10:g.197057438G>C , CM000663.1:g.197057438G>C	GRCh37
NC_000001.9:g.195324061G>C	NCBI36
NG_015867.1:g.63387C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3396C>G
ENST00000367409.9:c.10109C>G MANE Select	ENSP00000356379.4:p.Thr3370Arg
ENST00000680265.1:c.10331C>G	ENSP00000505384.1:p.Thr3444Arg
ENST00000680710.1:c.10085C>G	ENSP00000506676.1:p.Thr3362Arg
ENST00000294732.11:c.5354C>G	ENSP00000294732.7:p.Thr1785Arg
ENST00000367408.5:c.3104C>G	ENSP00000356378.1:p.Thr1035Arg
ENST00000367409.8:c.10109C>G	ENSP00000356379.4:p.Thr3370Arg
ENST00000612785.1:c.4067C>G	ENSP00000479244.1:p.Thr1356Arg
NM_001206846.1:c.5354C>G	NP_001193775.1:p.Thr1785Arg
NM_018136.4:c.10109C>G	NP_060606.3:p.Thr3370Arg
NM_018136.5:c.10109C>G MANE Select	NP_060606.3:p.Thr3370Arg
NM_001206846.2:c.5354C>G	NP_001193775.1:p.Thr1785Arg