Canonical Allele Identifier: CA344001654

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090217-G-C
• MyVariant Identifiers: chr1:g.197059347G>C (hg19) ; chr1:g.197090217G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090217G>C , CM000663.2:g.197090217G>C	GRCh38
NC_000001.10:g.197059347G>C , CM000663.1:g.197059347G>C	GRCh37
NC_000001.9:g.195325970G>C	NCBI36
NG_015867.1:g.61478C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3095C>G
ENST00000367409.9:c.9808C>G MANE Select	ENSP00000356379.4:p.Leu3270Val
ENST00000680265.1:c.10030C>G	ENSP00000505384.1:p.Leu3344Val
ENST00000680710.1:c.9784C>G	ENSP00000506676.1:p.Leu3262Val
ENST00000294732.11:c.5053C>G	ENSP00000294732.7:p.Leu1685Val
ENST00000367408.5:c.2803C>G	ENSP00000356378.1:p.Leu935Val
ENST00000367409.8:c.9808C>G	ENSP00000356379.4:p.Leu3270Val
ENST00000612785.1:c.3766C>G	ENSP00000479244.1:p.Leu1256Val
NM_001206846.1:c.5053C>G	NP_001193775.1:p.Leu1685Val
NM_018136.4:c.9808C>G	NP_060606.3:p.Leu3270Val
NM_018136.5:c.9808C>G MANE Select	NP_060606.3:p.Leu3270Val
NM_001206846.2:c.5053C>G	NP_001193775.1:p.Leu1685Val