Canonical Allele Identifier: CA343997481

Gene: ASPM

Linked Data

• dbSNP Id: rs2125087046
• gnomAD v4: 1-197088288-C-G
• MyVariant Identifiers: chr1:g.197057418C>G (hg19) ; chr1:g.197088288C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088288C>G , CM000663.2:g.197088288C>G	GRCh38
NC_000001.10:g.197057418C>G , CM000663.1:g.197057418C>G	GRCh37
NC_000001.9:g.195324041C>G	NCBI36
NG_015867.1:g.63407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3416G>C
ENST00000367409.9:c.10129G>C MANE Select	ENSP00000356379.4:p.Ala3377Pro
ENST00000680265.1:c.10351G>C	ENSP00000505384.1:p.Ala3451Pro
ENST00000680710.1:c.10105G>C	ENSP00000506676.1:p.Ala3369Pro
ENST00000294732.11:c.5374G>C	ENSP00000294732.7:p.Ala1792Pro
ENST00000367408.5:c.3124G>C	ENSP00000356378.1:p.Ala1042Pro
ENST00000367409.8:c.10129G>C	ENSP00000356379.4:p.Ala3377Pro
ENST00000612785.1:c.4087G>C	ENSP00000479244.1:p.Ala1363Pro
NM_001206846.1:c.5374G>C	NP_001193775.1:p.Ala1792Pro
NM_018136.4:c.10129G>C	NP_060606.3:p.Ala3377Pro
NM_018136.5:c.10129G>C MANE Select	NP_060606.3:p.Ala3377Pro
NM_001206846.2:c.5374G>C	NP_001193775.1:p.Ala1792Pro