Canonical Allele Identifier: CA422673025

Gene: ASPM

Linked Data

• dbSNP Id: rs1200083862
• gnomAD v2: 1-197062269-T-C
• gnomAD v4: 1-197093139-T-C
• MyVariant Identifiers: chr1:g.197062269T>C (hg19) ; chr1:g.197093139T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093139T>C , CM000663.2:g.197093139T>C	GRCh38
NC_000001.10:g.197062269T>C , CM000663.1:g.197062269T>C	GRCh37
NC_000001.9:g.195328892T>C	NCBI36
NG_015867.1:g.58556A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2494A>G
ENST00000367409.9:c.9207A>G MANE Select	ENSP00000356379.4:p.Gly3069=
ENST00000680265.1:c.9429A>G	ENSP00000505384.1:p.Gly3143=
ENST00000680710.1:c.9207A>G	ENSP00000506676.1:p.Gly3069=
ENST00000294732.11:c.4452A>G	ENSP00000294732.7:p.Gly1484=
ENST00000367408.5:c.2202A>G	ENSP00000356378.1:p.Gly734=
ENST00000367409.8:c.9207A>G	ENSP00000356379.4:p.Gly3069=
ENST00000612785.1:c.3165A>G	ENSP00000479244.1:p.Gly1055=
NM_001206846.1:c.4452A>G	NP_001193775.1:p.Gly1484=
NM_018136.4:c.9207A>G	NP_060606.3:p.Gly3069=
NM_018136.5:c.9207A>G MANE Select	NP_060606.3:p.Gly3069=
NM_001206846.2:c.4452A>G	NP_001193775.1:p.Gly1484=