Canonical Allele Identifier: CA1310037

Gene: ASPM

Linked Data

• ClinVar Variation Id: 874981
• ClinVar RCV Id: RCV001098421 ; RCV002554924
• dbSNP Id: rs376541100
• ExAC: 1:197087029 C / A
• gnomAD v2: 1-197087029-C-A
• gnomAD v3: 1-197117899-C-A
• gnomAD v4: 1-197117899-C-A
• MyVariant Identifiers: chr1:g.197087029C>A (hg19) ; chr1:g.197117899C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197117899C>A , CM000663.2:g.197117899C>A	GRCh38
NC_000001.10:g.197087029C>A , CM000663.1:g.197087029C>A	GRCh37
NC_000001.9:g.195353652C>A	NCBI36
NG_015867.1:g.33796G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.1997G>T
ENST00000367409.9:c.3955G>T MANE Select	ENSP00000356379.4:p.Ala1319Ser
ENST00000680265.1:c.3955G>T	ENSP00000505384.1:p.Ala1319Ser
ENST00000680710.1:c.3955G>T	ENSP00000506676.1:p.Ala1319Ser
ENST00000681879.1:c.4003G>T	ENSP00000505363.1:n.4003G>T
ENST00000294732.11:c.3955G>T	ENSP00000294732.7:p.Ala1319Ser
ENST00000367408.5:c.1705G>T	ENSP00000356378.1:p.Ala569Ser
ENST00000367409.8:c.3955G>T	ENSP00000356379.4:p.Ala1319Ser
ENST00000612785.1:c.562-15252G>T	ENSP00000479244.1:n.562-15252G>T
NM_001206846.1:c.3955G>T	NP_001193775.1:p.Ala1319Ser
NM_018136.4:c.3955G>T	NP_060606.3:p.Ala1319Ser
NM_018136.5:c.3955G>T MANE Select	NP_060606.3:p.Ala1319Ser
NM_001206846.2:c.3955G>T	NP_001193775.1:p.Ala1319Ser