Canonical Allele Identifier: CA344001496

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059329G>T (hg19) ; chr1:g.197090199G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090199G>T , CM000663.2:g.197090199G>T	GRCh38
NC_000001.10:g.197059329G>T , CM000663.1:g.197059329G>T	GRCh37
NC_000001.9:g.195325952G>T	NCBI36
NG_015867.1:g.61496C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3113C>A
ENST00000367409.9:c.9826C>A MANE Select	ENSP00000356379.4:p.Leu3276Ile
ENST00000680265.1:c.10048C>A	ENSP00000505384.1:p.Leu3350Ile
ENST00000680710.1:c.9802C>A	ENSP00000506676.1:p.Leu3268Ile
ENST00000294732.11:c.5071C>A	ENSP00000294732.7:p.Leu1691Ile
ENST00000367408.5:c.2821C>A	ENSP00000356378.1:p.Leu941Ile
ENST00000367409.8:c.9826C>A	ENSP00000356379.4:p.Leu3276Ile
ENST00000612785.1:c.3784C>A	ENSP00000479244.1:p.Leu1262Ile
NM_001206846.1:c.5071C>A	NP_001193775.1:p.Leu1691Ile
NM_018136.4:c.9826C>A	NP_060606.3:p.Leu3276Ile
NM_018136.5:c.9826C>A MANE Select	NP_060606.3:p.Leu3276Ile
NM_001206846.2:c.5071C>A	NP_001193775.1:p.Leu1691Ile