Canonical Allele Identifier: CA343998525

Gene: ASPM

Linked Data

• dbSNP Id: rs1384008023
• gnomAD v2: 1-197057511-G-C
• gnomAD v4: 1-197088381-G-C
• MyVariant Identifiers: chr1:g.197057511G>C (hg19) ; chr1:g.197088381G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088381G>C , CM000663.2:g.197088381G>C	GRCh38
NC_000001.10:g.197057511G>C , CM000663.1:g.197057511G>C	GRCh37
NC_000001.9:g.195324134G>C	NCBI36
NG_015867.1:g.63314C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3323C>G
ENST00000367409.9:c.10036C>G MANE Select	ENSP00000356379.4:p.Leu3346Val
ENST00000680265.1:c.10258C>G	ENSP00000505384.1:p.Leu3420Val
ENST00000680710.1:c.10012C>G	ENSP00000506676.1:p.Leu3338Val
ENST00000294732.11:c.5281C>G	ENSP00000294732.7:p.Leu1761Val
ENST00000367408.5:c.3031C>G	ENSP00000356378.1:p.Leu1011Val
ENST00000367409.8:c.10036C>G	ENSP00000356379.4:p.Leu3346Val
ENST00000612785.1:c.3994C>G	ENSP00000479244.1:p.Leu1332Val
NM_001206846.1:c.5281C>G	NP_001193775.1:p.Leu1761Val
NM_018136.4:c.10036C>G	NP_060606.3:p.Leu3346Val
NM_018136.5:c.10036C>G MANE Select	NP_060606.3:p.Leu3346Val
NM_001206846.2:c.5281C>G	NP_001193775.1:p.Leu1761Val