Canonical Allele Identifier: CA357618242

Gene: SPP1

Linked Data

• gnomAD v4: 4-87982513-G-C
• MyVariant Identifiers: chr4:g.88903665G>C (hg19) ; chr4:g.87982513G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87982513G>C , CM000666.2:g.87982513G>C	GRCh38
NC_000004.11:g.88903665G>C , CM000666.1:g.88903665G>C	GRCh37
NC_000004.10:g.89122689G>C	NCBI36
NG_030362.1:g.11864G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508233.6:c.439G>C	ENSP00000422973.2:p.Asp147His
ENST00000614857.5:c.562G>C	ENSP00000477824.2:p.Asp188His
ENST00000681973.1:n.789G>C
ENST00000682026.1:n.515G>C
ENST00000682448.1:n.2048G>C
ENST00000682554.1:n.2010G>C
ENST00000682599.1:n.3050G>C
ENST00000682627.1:n.482G>C
ENST00000682865.1:n.846G>C
ENST00000683087.1:n.576G>C
ENST00000683168.1:n.1316G>C
ENST00000683620.1:n.1744G>C
ENST00000684106.1:n.2812G>C
ENST00000684450.1:n.1621G>C
ENST00000684710.1:n.1853G>C
ENST00000395080.8:c.562G>C MANE Select	ENSP00000378517.3:p.Asp188His
ENST00000237623.11:c.520G>C	ENSP00000237623.7:p.Asp174His
ENST00000360804.4:c.481G>C	ENSP00000354042.4:p.Asp161His
ENST00000395080.7:c.562G>C	ENSP00000378517.3:p.Asp188His
ENST00000508233.5:c.439G>C	ENSP00000422973.1:p.Asp147His
ENST00000509659.5:n.851G>C
ENST00000614857.4:c.496G>C	ENSP00000477824.1:p.Asp166His
NM_000582.2:c.520G>C	NP_000573.1:p.Asp174His
NM_001040058.1:c.562G>C	NP_001035147.1:p.Asp188His
NM_001040060.1:c.481G>C	NP_001035149.1:p.Asp161His
NM_001251829.1:c.439G>C	NP_001238758.1:p.Asp147His
NM_001251830.1:c.601G>C	NP_001238759.1:p.Asp201His
NM_001040058.2:c.562G>C MANE Select	NP_001035147.1:p.Asp188His
NM_000582.3:c.520G>C	NP_000573.1:p.Asp174His
NM_001040060.2:c.481G>C	NP_001035149.1:p.Asp161His
NM_001251829.2:c.439G>C	NP_001238758.1:p.Asp147His
NM_001251830.2:c.601G>C	NP_001238759.1:p.Asp201His