Canonical Allele Identifier: CA344016693

Gene: ASPM

Linked Data

• dbSNP Id: rs1479941857
• gnomAD v3: 1-197142909-T-G
• gnomAD v4: 1-197142909-T-G
• MyVariant Identifiers: chr1:g.197112039T>G (hg19) ; chr1:g.197142909T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142909T>G , CM000663.2:g.197142909T>G	GRCh38
NC_000001.10:g.197112039T>G , CM000663.1:g.197112039T>G	GRCh37
NC_000001.9:g.195378662T>G	NCBI36
NG_015867.1:g.8786A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1343A>C MANE Select	ENSP00000356379.4:p.Lys448Thr
ENST00000679766.1:n.1560A>C
ENST00000680265.1:c.1343A>C	ENSP00000505384.1:p.Lys448Thr
ENST00000680710.1:c.1343A>C	ENSP00000506676.1:p.Lys448Thr
ENST00000681879.1:c.1343A>C	ENSP00000505363.1:p.Lys448Thr
ENST00000294732.11:c.1343A>C	ENSP00000294732.7:p.Lys448Thr
ENST00000367409.8:c.1343A>C	ENSP00000356379.4:p.Lys448Thr
ENST00000612785.1:c.561+782A>C	ENSP00000479244.1:n.561+782A>C
NM_001206846.1:c.1343A>C	NP_001193775.1:p.Lys448Thr
NM_018136.4:c.1343A>C	NP_060606.3:p.Lys448Thr
NM_018136.5:c.1343A>C MANE Select	NP_060606.3:p.Lys448Thr
NM_001206846.2:c.1343A>C	NP_001193775.1:p.Lys448Thr