Canonical Allele Identifier: CA344016946

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2135652
• ClinVar RCV Id: RCV003048728
• MyVariant Identifiers: chr1:g.197112109A>G (hg19) ; chr1:g.197142979A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142979A>G , CM000663.2:g.197142979A>G	GRCh38
NC_000001.10:g.197112109A>G , CM000663.1:g.197112109A>G	GRCh37
NC_000001.9:g.195378732A>G	NCBI36
NG_015867.1:g.8716T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1273T>C MANE Select	ENSP00000356379.4:p.Ser425Pro
ENST00000679766.1:n.1490T>C
ENST00000680265.1:c.1273T>C	ENSP00000505384.1:p.Ser425Pro
ENST00000680710.1:c.1273T>C	ENSP00000506676.1:p.Ser425Pro
ENST00000681879.1:c.1273T>C	ENSP00000505363.1:p.Ser425Pro
ENST00000294732.11:c.1273T>C	ENSP00000294732.7:p.Ser425Pro
ENST00000367409.8:c.1273T>C	ENSP00000356379.4:p.Ser425Pro
ENST00000612785.1:c.561+712T>C	ENSP00000479244.1:n.561+712T>C
NM_001206846.1:c.1273T>C	NP_001193775.1:p.Ser425Pro
NM_018136.4:c.1273T>C	NP_060606.3:p.Ser425Pro
NM_018136.5:c.1273T>C MANE Select	NP_060606.3:p.Ser425Pro
NM_001206846.2:c.1273T>C	NP_001193775.1:p.Ser425Pro