Canonical Allele Identifier: CA1308939

Gene: ASPM

Linked Data

• dbSNP Id: rs751704605
• ExAC: 1:197060152 A / G
• gnomAD v2: 1-197060152-A-G
• gnomAD v4: 1-197091022-A-G
• MyVariant Identifiers: chr1:g.197060152A>G (hg19) ; chr1:g.197091022A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091022A>G , CM000663.2:g.197091022A>G	GRCh38
NC_000001.10:g.197060152A>G , CM000663.1:g.197060152A>G	GRCh37
NC_000001.9:g.195326775A>G	NCBI36
NG_015867.1:g.60673T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2751T>C
ENST00000367409.9:c.9464T>C MANE Select	ENSP00000356379.4:p.Leu3155Ser
ENST00000680265.1:c.9686T>C	ENSP00000505384.1:p.Leu3229Ser
ENST00000680710.1:c.9440T>C	ENSP00000506676.1:p.Leu3147Ser
ENST00000294732.11:c.4709T>C	ENSP00000294732.7:p.Leu1570Ser
ENST00000367408.5:c.2459T>C	ENSP00000356378.1:p.Leu820Ser
ENST00000367409.8:c.9464T>C	ENSP00000356379.4:p.Leu3155Ser
ENST00000612785.1:c.3422T>C	ENSP00000479244.1:p.Leu1141Ser
NM_001206846.1:c.4709T>C	NP_001193775.1:p.Leu1570Ser
NM_018136.4:c.9464T>C	NP_060606.3:p.Leu3155Ser
NM_018136.5:c.9464T>C MANE Select	NP_060606.3:p.Leu3155Ser
NM_001206846.2:c.4709T>C	NP_001193775.1:p.Leu1570Ser