Canonical Allele Identifier: CA344001678

Gene: ASPM

Linked Data

• dbSNP Id: rs1656733444
• gnomAD v3: 1-197090229-G-T
• gnomAD v4: 1-197090229-G-T
• MyVariant Identifiers: chr1:g.197059359G>T (hg19) ; chr1:g.197090229G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090229G>T , CM000663.2:g.197090229G>T	GRCh38
NC_000001.10:g.197059359G>T , CM000663.1:g.197059359G>T	GRCh37
NC_000001.9:g.195325982G>T	NCBI36
NG_015867.1:g.61466C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3083C>A
ENST00000367409.9:c.9796C>A MANE Select	ENSP00000356379.4:p.Leu3266Ile
ENST00000680265.1:c.10018C>A	ENSP00000505384.1:p.Leu3340Ile
ENST00000680710.1:c.9772C>A	ENSP00000506676.1:p.Leu3258Ile
ENST00000294732.11:c.5041C>A	ENSP00000294732.7:p.Leu1681Ile
ENST00000367408.5:c.2791C>A	ENSP00000356378.1:p.Leu931Ile
ENST00000367409.8:c.9796C>A	ENSP00000356379.4:p.Leu3266Ile
ENST00000612785.1:c.3754C>A	ENSP00000479244.1:p.Leu1252Ile
NM_001206846.1:c.5041C>A	NP_001193775.1:p.Leu1681Ile
NM_018136.4:c.9796C>A	NP_060606.3:p.Leu3266Ile
NM_018136.5:c.9796C>A MANE Select	NP_060606.3:p.Leu3266Ile
NM_001206846.2:c.5041C>A	NP_001193775.1:p.Leu1681Ile