Canonical Allele Identifier: CA5981990

Gene: PTPRJ

Linked Data

• dbSNP Id: rs759154932
• ExAC: 11:48145305 T / C
• gnomAD v2: 11-48145305-T-C
• gnomAD v4: 11-48123753-T-C
• MyVariant Identifiers: chr11:g.48145305T>C (hg19) ; chr11:g.48123753T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.48123753T>C , CM000673.2:g.48123753T>C	GRCh38
NC_000011.9:g.48145305T>C , CM000673.1:g.48145305T>C	GRCh37
NC_000011.8:g.48101881T>C	NCBI36
NG_012209.1:g.148196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698881.1:c.1099T>C	ENSP00000514003.1:p.Ser367Pro
ENST00000418331.7:c.757T>C MANE Select	ENSP00000400010.2:p.Ser253Pro
ENST00000418331.6:c.757T>C	ENSP00000400010.2:p.Ser253Pro
ENST00000440289.6:c.757T>C	ENSP00000409733.2:p.Ser253Pro
ENST00000613246.4:c.757T>C	ENSP00000477933.1:p.Ser253Pro
ENST00000615445.4:c.757T>C	ENSP00000479342.1:p.Ser253Pro
NM_001098503.1:c.757T>C	NP_001091973.1:p.Ser253Pro
NM_002843.3:c.757T>C	NP_002834.3:p.Ser253Pro
XM_011520249.1:c.790T>C	XP_011518551.1:p.Ser264Pro
XR_930883.1:n.1107T>C
XM_017018083.1:c.835T>C	XP_016873572.1:p.Ser279Pro
XM_017018084.1:c.778T>C	XP_016873573.1:p.Ser260Pro
XM_017018085.1:c.709T>C	XP_016873574.1:p.Ser237Pro
XR_930883.2:n.1166T>C
NM_002843.4:c.757T>C MANE Select	NP_002834.3:p.Ser253Pro
NM_001098503.2:c.757T>C	NP_001091973.1:p.Ser253Pro