Canonical Allele Identifier: CA344039840

Gene: ASPM

Linked Data

• dbSNP Id: rs1657933811
• gnomAD v4: 1-197122275-G-T
• MyVariant Identifiers: chr1:g.197091405G>T (hg19) ; chr1:g.197122275G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122275G>T , CM000663.2:g.197122275G>T	GRCh38
NC_000001.10:g.197091405G>T , CM000663.1:g.197091405G>T	GRCh37
NC_000001.9:g.195358028G>T	NCBI36
NG_015867.1:g.29420C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1667C>A
ENST00000367409.9:c.3625C>A MANE Select	ENSP00000356379.4:p.Leu1209Ile
ENST00000680112.1:n.1681C>A
ENST00000680265.1:c.3625C>A	ENSP00000505384.1:p.Leu1209Ile
ENST00000680710.1:c.3625C>A	ENSP00000506676.1:p.Leu1209Ile
ENST00000681879.1:c.3625C>A	ENSP00000505363.1:p.Leu1209Ile
ENST00000294732.11:c.3625C>A	ENSP00000294732.7:p.Leu1209Ile
ENST00000367408.5:c.1375C>A	ENSP00000356378.1:p.Leu459Ile
ENST00000367409.8:c.3625C>A	ENSP00000356379.4:p.Leu1209Ile
ENST00000612785.1:c.562-19628C>A	ENSP00000479244.1:n.562-19628C>A
NM_001206846.1:c.3625C>A	NP_001193775.1:p.Leu1209Ile
NM_018136.4:c.3625C>A	NP_060606.3:p.Leu1209Ile
NM_018136.5:c.3625C>A MANE Select	NP_060606.3:p.Leu1209Ile
NM_001206846.2:c.3625C>A	NP_001193775.1:p.Leu1209Ile