Canonical Allele Identifier: CA422673188

Gene: ASPM

Linked Data

• dbSNP Id: rs1656843485
• gnomAD v4: 1-197093190-C-T
• MyVariant Identifiers: chr1:g.197062320C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093190C>T , CM000663.2:g.197093190C>T	GRCh38
NC_000001.10:g.197062320C>T , CM000663.1:g.197062320C>T	GRCh37
NC_000001.9:g.195328943C>T	NCBI36
NG_015867.1:g.58505G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2443G>A
ENST00000367409.9:c.9156G>A MANE Select	ENSP00000356379.4:p.Gln3052=
ENST00000680265.1:c.9378G>A	ENSP00000505384.1:p.Gln3126=
ENST00000680710.1:c.9156G>A	ENSP00000506676.1:p.Gln3052=
ENST00000294732.11:c.4401G>A	ENSP00000294732.7:p.Gln1467=
ENST00000367408.5:c.2151G>A	ENSP00000356378.1:p.Gln717=
ENST00000367409.8:c.9156G>A	ENSP00000356379.4:p.Gln3052=
ENST00000612785.1:c.3114G>A	ENSP00000479244.1:p.Gln1038=
NM_001206846.1:c.4401G>A	NP_001193775.1:p.Gln1467=
NM_018136.4:c.9156G>A	NP_060606.3:p.Gln3052=
NM_018136.5:c.9156G>A MANE Select	NP_060606.3:p.Gln3052=
NM_001206846.2:c.4401G>A	NP_001193775.1:p.Gln1467=