Canonical Allele Identifier: CA1310667

Gene: ASPM

Linked Data

• dbSNP Id: rs555866170
• ExAC: 1:197111685 G / C
• gnomAD v2: 1-197111685-G-C
• gnomAD v4: 1-197142555-G-C
• MyVariant Identifiers: chr1:g.197111685G>C (hg19) ; chr1:g.197142555G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142555G>C , CM000663.2:g.197142555G>C	GRCh38
NC_000001.10:g.197111685G>C , CM000663.1:g.197111685G>C	GRCh37
NC_000001.9:g.195378308G>C	NCBI36
NG_015867.1:g.9140C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1697C>G MANE Select	ENSP00000356379.4:p.Ser566Trp
ENST00000679766.1:n.1914C>G
ENST00000680265.1:c.1697C>G	ENSP00000505384.1:p.Ser566Trp
ENST00000680710.1:c.1697C>G	ENSP00000506676.1:p.Ser566Trp
ENST00000681879.1:c.1697C>G	ENSP00000505363.1:p.Ser566Trp
ENST00000294732.11:c.1697C>G	ENSP00000294732.7:p.Ser566Trp
ENST00000367409.8:c.1697C>G	ENSP00000356379.4:p.Ser566Trp
ENST00000612785.1:c.561+1136C>G	ENSP00000479244.1:n.561+1136C>G
NM_001206846.1:c.1697C>G	NP_001193775.1:p.Ser566Trp
NM_018136.4:c.1697C>G	NP_060606.3:p.Ser566Trp
NM_018136.5:c.1697C>G MANE Select	NP_060606.3:p.Ser566Trp
NM_001206846.2:c.1697C>G	NP_001193775.1:p.Ser566Trp