Canonical Allele Identifier: CA422672225

Gene: ASPM

Linked Data

• gnomAD v4: 1-197088394-A-G
• MyVariant Identifiers: chr1:g.197057524A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088394A>G , CM000663.2:g.197088394A>G	GRCh38
NC_000001.10:g.197057524A>G , CM000663.1:g.197057524A>G	GRCh37
NC_000001.9:g.195324147A>G	NCBI36
NG_015867.1:g.63301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3310T>C
ENST00000367409.9:c.10023T>C MANE Select	ENSP00000356379.4:p.Asn3341=
ENST00000680265.1:c.10245T>C	ENSP00000505384.1:p.Asn3415=
ENST00000680710.1:c.9999T>C	ENSP00000506676.1:p.Asn3333=
ENST00000294732.11:c.5268T>C	ENSP00000294732.7:p.Asn1756=
ENST00000367408.5:c.3018T>C	ENSP00000356378.1:p.Asn1006=
ENST00000367409.8:c.10023T>C	ENSP00000356379.4:p.Asn3341=
ENST00000612785.1:c.3981T>C	ENSP00000479244.1:p.Asn1327=
NM_001206846.1:c.5268T>C	NP_001193775.1:p.Asn1756=
NM_018136.4:c.10023T>C	NP_060606.3:p.Asn3341=
NM_018136.5:c.10023T>C MANE Select	NP_060606.3:p.Asn3341=
NM_001206846.2:c.5268T>C	NP_001193775.1:p.Asn1756=