Canonical Allele Identifier: CA422674727

Gene: ASPM

Linked Data

• dbSNP Id: rs1447802941
• gnomAD v2: 1-197087027-T-G
• gnomAD v4: 1-197117897-T-G
• MyVariant Identifiers: chr1:g.197087027T>G (hg19) ; chr1:g.197117897T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197117897T>G , CM000663.2:g.197117897T>G	GRCh38
NC_000001.10:g.197087027T>G , CM000663.1:g.197087027T>G	GRCh37
NC_000001.9:g.195353650T>G	NCBI36
NG_015867.1:g.33798A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.1999A>C
ENST00000367409.9:c.3957A>C MANE Select	ENSP00000356379.4:p.Ala1319=
ENST00000680265.1:c.3957A>C	ENSP00000505384.1:p.Ala1319=
ENST00000680710.1:c.3957A>C	ENSP00000506676.1:p.Ala1319=
ENST00000681879.1:c.4005A>C	ENSP00000505363.1:n.4005A>C
ENST00000294732.11:c.3957A>C	ENSP00000294732.7:p.Ala1319=
ENST00000367408.5:c.1707A>C	ENSP00000356378.1:p.Ala569=
ENST00000367409.8:c.3957A>C	ENSP00000356379.4:p.Ala1319=
ENST00000612785.1:c.562-15250A>C	ENSP00000479244.1:n.562-15250A>C
NM_001206846.1:c.3957A>C	NP_001193775.1:p.Ala1319=
NM_018136.4:c.3957A>C	NP_060606.3:p.Ala1319=
NM_018136.5:c.3957A>C MANE Select	NP_060606.3:p.Ala1319=
NM_001206846.2:c.3957A>C	NP_001193775.1:p.Ala1319=