Canonical Allele Identifier: CA1310087

Gene: ASPM

Linked Data

• ClinVar Variation Id: 294636
• ClinVar RCV Id: RCV000398845
• dbSNP Id: rs748824950
• ExAC: 1:197091185 C / G
• gnomAD v2: 1-197091185-C-G
• gnomAD v4: 1-197122055-C-G
• MyVariant Identifiers: chr1:g.197091185C>G (hg19) ; chr1:g.197122055C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122055C>G , CM000663.2:g.197122055C>G	GRCh38
NC_000001.10:g.197091185C>G , CM000663.1:g.197091185C>G	GRCh37
NC_000001.9:g.195357808C>G	NCBI36
NG_015867.1:g.29640G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1784-12G>C
ENST00000367409.9:c.3742-12G>C MANE Select	ENSP00000356379.4:n.3742-12G>C
ENST00000680112.1:n.1798-12G>C
ENST00000680265.1:c.3742-12G>C	ENSP00000505384.1:n.3742-12G>C
ENST00000680710.1:c.3742-12G>C	ENSP00000506676.1:n.3742-12G>C
ENST00000681879.1:c.3742-12G>C	ENSP00000505363.1:n.3742-12G>C
ENST00000294732.11:c.3742-12G>C	ENSP00000294732.7:n.3742-12G>C
ENST00000367408.5:c.1492-12G>C	ENSP00000356378.1:n.1492-12G>C
ENST00000367409.8:c.3742-12G>C	ENSP00000356379.4:n.3742-12G>C
ENST00000612785.1:c.562-19408G>C	ENSP00000479244.1:n.562-19408G>C
NM_001206846.1:c.3742-12G>C	NP_001193775.1:n.3742-12G>C
NM_018136.4:c.3742-12G>C	NP_060606.3:n.3742-12G>C
NM_018136.5:c.3742-12G>C MANE Select	NP_060606.3:n.3742-12G>C
NM_001206846.2:c.3742-12G>C	NP_001193775.1:n.3742-12G>C