Canonical Allele Identifier: CA344040256

Gene: ASPM

Linked Data

• dbSNP Id: rs568559471
• gnomAD v3: 1-197122467-T-G
• gnomAD v4: 1-197122467-T-G
• MyVariant Identifiers: chr1:g.197091597T>G (hg19) ; chr1:g.197122467T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122467T>G , CM000663.2:g.197122467T>G	GRCh38
NC_000001.10:g.197091597T>G , CM000663.1:g.197091597T>G	GRCh37
NC_000001.9:g.195358220T>G	NCBI36
NG_015867.1:g.29228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1561A>C
ENST00000367409.9:c.3519A>C MANE Select	ENSP00000356379.4:p.Gln1173His
ENST00000680112.1:n.1575A>C
ENST00000680265.1:c.3519A>C	ENSP00000505384.1:p.Gln1173His
ENST00000680710.1:c.3519A>C	ENSP00000506676.1:p.Gln1173His
ENST00000681879.1:c.3519A>C	ENSP00000505363.1:p.Gln1173His
ENST00000294732.11:c.3519A>C	ENSP00000294732.7:p.Gln1173His
ENST00000367408.5:c.1269A>C	ENSP00000356378.1:p.Gln423His
ENST00000367409.8:c.3519A>C	ENSP00000356379.4:p.Gln1173His
ENST00000612785.1:c.562-19820A>C	ENSP00000479244.1:n.562-19820A>C
NM_001206846.1:c.3519A>C	NP_001193775.1:p.Gln1173His
NM_018136.4:c.3519A>C	NP_060606.3:p.Gln1173His
NM_018136.5:c.3519A>C MANE Select	NP_060606.3:p.Gln1173His
NM_001206846.2:c.3519A>C	NP_001193775.1:p.Gln1173His