Canonical Allele Identifier: CA3003617

Gene: SPP1

Linked Data

• dbSNP Id: rs759100566
• ExAC: 4:88903650 G / C
• gnomAD v2: 4-88903650-G-C
• gnomAD v3: 4-87982498-G-C
• gnomAD v4: 4-87982498-G-C
• MyVariant Identifiers: chr4:g.88903650G>C (hg19) ; chr4:g.87982498G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87982498G>C , CM000666.2:g.87982498G>C	GRCh38
NC_000004.11:g.88903650G>C , CM000666.1:g.88903650G>C	GRCh37
NC_000004.10:g.89122674G>C	NCBI36
NG_030362.1:g.11849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508233.6:c.424G>C	ENSP00000422973.2:p.Asp142His
ENST00000614857.5:c.547G>C	ENSP00000477824.2:p.Asp183His
ENST00000681973.1:n.774G>C
ENST00000682026.1:n.500G>C
ENST00000682448.1:n.2033G>C
ENST00000682554.1:n.1995G>C
ENST00000682599.1:n.3035G>C
ENST00000682627.1:n.467G>C
ENST00000682865.1:n.831G>C
ENST00000683087.1:n.561G>C
ENST00000683168.1:n.1301G>C
ENST00000683620.1:n.1729G>C
ENST00000684106.1:n.2797G>C
ENST00000684450.1:n.1606G>C
ENST00000684710.1:n.1838G>C
ENST00000395080.8:c.547G>C MANE Select	ENSP00000378517.3:p.Asp183His
ENST00000237623.11:c.505G>C	ENSP00000237623.7:p.Asp169His
ENST00000360804.4:c.466G>C	ENSP00000354042.4:p.Asp156His
ENST00000395080.7:c.547G>C	ENSP00000378517.3:p.Asp183His
ENST00000508233.5:c.424G>C	ENSP00000422973.1:p.Asp142His
ENST00000509659.5:n.836G>C
ENST00000614857.4:c.481G>C	ENSP00000477824.1:p.Asp161His
NM_000582.2:c.505G>C	NP_000573.1:p.Asp169His
NM_001040058.1:c.547G>C	NP_001035147.1:p.Asp183His
NM_001040060.1:c.466G>C	NP_001035149.1:p.Asp156His
NM_001251829.1:c.424G>C	NP_001238758.1:p.Asp142His
NM_001251830.1:c.586G>C	NP_001238759.1:p.Asp196His
NM_001040058.2:c.547G>C MANE Select	NP_001035147.1:p.Asp183His
NM_000582.3:c.505G>C	NP_000573.1:p.Asp169His
NM_001040060.2:c.466G>C	NP_001035149.1:p.Asp156His
NM_001251829.2:c.424G>C	NP_001238758.1:p.Asp142His
NM_001251830.2:c.586G>C	NP_001238759.1:p.Asp196His