Canonical Allele Identifier: CA2497028783

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197125232C>G , CM000663.2:g.197125232C>G	GRCh38
NC_000001.10:g.197094362C>G , CM000663.1:g.197094362C>G	GRCh37
NC_000001.9:g.195360985C>G	NCBI36
NG_015867.1:g.26463G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.889-41G>C
ENST00000367409.9:c.2937-41G>C MANE Select	ENSP00000356379.4:n.2937-41G>C
ENST00000680112.1:n.993-41G>C
ENST00000680265.1:c.2937-41G>C	ENSP00000505384.1:n.2937-41G>C
ENST00000680710.1:c.2937-41G>C	ENSP00000506676.1:n.2937-41G>C
ENST00000681879.1:c.2937-41G>C	ENSP00000505363.1:n.2937-41G>C
ENST00000294732.11:c.2937-41G>C	ENSP00000294732.7:n.2937-41G>C
ENST00000367408.5:c.687-41G>C	ENSP00000356378.1:n.687-41G>C
ENST00000367409.8:c.2937-41G>C	ENSP00000356379.4:n.2937-41G>C
ENST00000612785.1:c.561+18459G>C	ENSP00000479244.1:n.561+18459G>C
NM_001206846.1:c.2937-41G>C	NP_001193775.1:n.2937-41G>C
NM_018136.4:c.2937-41G>C	NP_060606.3:n.2937-41G>C
NM_018136.5:c.2937-41G>C MANE Select	NP_060606.3:n.2937-41G>C
NM_001206846.2:c.2937-41G>C	NP_001193775.1:n.2937-41G>C