Canonical Allele Identifier: CA35884232

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1444355
• ClinVar RCV Id: RCV001982365
• dbSNP Id: rs540483849
• MyVariant Identifiers: chr1:g.197093377G>C (hg19) ; chr1:g.197124247G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124247G>C , CM000663.2:g.197124247G>C	GRCh38
NC_000001.10:g.197093377G>C , CM000663.1:g.197093377G>C	GRCh37
NC_000001.9:g.195360000G>C	NCBI36
NG_015867.1:g.27448C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1295C>G
ENST00000367409.9:c.3253C>G MANE Select	ENSP00000356379.4:p.Leu1085Val
ENST00000680112.1:n.1309C>G
ENST00000680265.1:c.3253C>G	ENSP00000505384.1:p.Leu1085Val
ENST00000680710.1:c.3253C>G	ENSP00000506676.1:p.Leu1085Val
ENST00000681879.1:c.3253C>G	ENSP00000505363.1:p.Leu1085Val
ENST00000294732.11:c.3253C>G	ENSP00000294732.7:p.Leu1085Val
ENST00000367408.5:c.1003C>G	ENSP00000356378.1:p.Leu335Val
ENST00000367409.8:c.3253C>G	ENSP00000356379.4:p.Leu1085Val
ENST00000612785.1:c.561+19444C>G	ENSP00000479244.1:n.561+19444C>G
NM_001206846.1:c.3253C>G	NP_001193775.1:p.Leu1085Val
NM_018136.4:c.3253C>G	NP_060606.3:p.Leu1085Val
NM_018136.5:c.3253C>G MANE Select	NP_060606.3:p.Leu1085Val
NM_001206846.2:c.3253C>G	NP_001193775.1:p.Leu1085Val