Canonical Allele Identifier: CA344018460

Gene: ASPM

Linked Data

• dbSNP Id: rs1658662295
• gnomAD v3: 1-197143338-G-A
• gnomAD v4: 1-197143338-G-A
• MyVariant Identifiers: chr1:g.197112468G>A (hg19) ; chr1:g.197143338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143338G>A , CM000663.2:g.197143338G>A	GRCh38
NC_000001.10:g.197112468G>A , CM000663.1:g.197112468G>A	GRCh37
NC_000001.9:g.195379091G>A	NCBI36
NG_015867.1:g.8357C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.914C>T MANE Select	ENSP00000356379.4:p.Thr305Ile
ENST00000679766.1:n.1131C>T
ENST00000680265.1:c.914C>T	ENSP00000505384.1:p.Thr305Ile
ENST00000680710.1:c.914C>T	ENSP00000506676.1:p.Thr305Ile
ENST00000681879.1:c.914C>T	ENSP00000505363.1:p.Thr305Ile
ENST00000294732.11:c.914C>T	ENSP00000294732.7:p.Thr305Ile
ENST00000367409.8:c.914C>T	ENSP00000356379.4:p.Thr305Ile
ENST00000612785.1:c.561+353C>T	ENSP00000479244.1:n.561+353C>T
NM_001206846.1:c.914C>T	NP_001193775.1:p.Thr305Ile
NM_018136.4:c.914C>T	NP_060606.3:p.Thr305Ile
NM_018136.5:c.914C>T MANE Select	NP_060606.3:p.Thr305Ile
NM_001206846.2:c.914C>T	NP_001193775.1:p.Thr305Ile