Canonical Allele Identifier: CA344001673

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059358A>C (hg19) ; chr1:g.197090228A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090228A>C , CM000663.2:g.197090228A>C	GRCh38
NC_000001.10:g.197059358A>C , CM000663.1:g.197059358A>C	GRCh37
NC_000001.9:g.195325981A>C	NCBI36
NG_015867.1:g.61467T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3084T>G
ENST00000367409.9:c.9797T>G MANE Select	ENSP00000356379.4:p.Leu3266Arg
ENST00000680265.1:c.10019T>G	ENSP00000505384.1:p.Leu3340Arg
ENST00000680710.1:c.9773T>G	ENSP00000506676.1:p.Leu3258Arg
ENST00000294732.11:c.5042T>G	ENSP00000294732.7:p.Leu1681Arg
ENST00000367408.5:c.2792T>G	ENSP00000356378.1:p.Leu931Arg
ENST00000367409.8:c.9797T>G	ENSP00000356379.4:p.Leu3266Arg
ENST00000612785.1:c.3755T>G	ENSP00000479244.1:p.Leu1252Arg
NM_001206846.1:c.5042T>G	NP_001193775.1:p.Leu1681Arg
NM_018136.4:c.9797T>G	NP_060606.3:p.Leu3266Arg
NM_018136.5:c.9797T>G MANE Select	NP_060606.3:p.Leu3266Arg
NM_001206846.2:c.5042T>G	NP_001193775.1:p.Leu1681Arg