Canonical Allele Identifier: CA1308997

Gene: ASPM

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093050A>G , CM000663.2:g.197093050A>G	GRCh38
NC_000001.10:g.197062180A>G , CM000663.1:g.197062180A>G	GRCh37
NC_000001.9:g.195328803A>G	NCBI36
NG_015867.1:g.58645T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2581+2T>C
ENST00000367409.9:c.9294+2T>C MANE Select	ENSP00000356379.4:n.9294+2T>C
ENST00000680265.1:c.9516+2T>C	ENSP00000505384.1:n.9516+2T>C
ENST00000680710.1:c.9294+2T>C	ENSP00000506676.1:n.9294+2T>C
ENST00000294732.11:c.4539+2T>C	ENSP00000294732.7:n.4539+2T>C
ENST00000367408.5:c.2289+2T>C	ENSP00000356378.1:n.2289+2T>C
ENST00000367409.8:c.9294+2T>C	ENSP00000356379.4:n.9294+2T>C
ENST00000612785.1:c.3252+2T>C	ENSP00000479244.1:n.3252+2T>C
NM_001206846.1:c.4539+2T>C	NP_001193775.1:n.4539+2T>C
NM_018136.4:c.9294+2T>C	NP_060606.3:n.9294+2T>C
NM_018136.5:c.9294+2T>C MANE Select	NP_060606.3:n.9294+2T>C
NM_001206846.2:c.4539+2T>C	NP_001193775.1:n.4539+2T>C