Canonical Allele Identifier: CA422677133

Gene: ASPM

Linked Data

• dbSNP Id: rs1658613727
• gnomAD v4: 1-197142392-C-T
• MyVariant Identifiers: chr1:g.197111522C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142392C>T , CM000663.2:g.197142392C>T	GRCh38
NC_000001.10:g.197111522C>T , CM000663.1:g.197111522C>T	GRCh37
NC_000001.9:g.195378145C>T	NCBI36
NG_015867.1:g.9303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1860G>A MANE Select	ENSP00000356379.4:p.Val620=
ENST00000679766.1:n.2077G>A
ENST00000680265.1:c.1860G>A	ENSP00000505384.1:p.Val620=
ENST00000680710.1:c.1860G>A	ENSP00000506676.1:p.Val620=
ENST00000681879.1:c.1860G>A	ENSP00000505363.1:p.Val620=
ENST00000294732.11:c.1860G>A	ENSP00000294732.7:p.Val620=
ENST00000367409.8:c.1860G>A	ENSP00000356379.4:p.Val620=
ENST00000612785.1:c.561+1299G>A	ENSP00000479244.1:n.561+1299G>A
NM_001206846.1:c.1860G>A	NP_001193775.1:p.Val620=
NM_018136.4:c.1860G>A	NP_060606.3:p.Val620=
NM_018136.5:c.1860G>A MANE Select	NP_060606.3:p.Val620=
NM_001206846.2:c.1860G>A	NP_001193775.1:p.Val620=