Canonical Allele Identifier: CA4529961

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• dbSNP Id: rs768853338
• ExAC: 7:142459840 G / C
• gnomAD v2: 7-142459840-G-C
• MyVariant Identifiers: chr7:g.142459840G>C (hg19) ; chr7:g.142751989G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751989G>C , CM000669.2:g.142751989G>C	GRCh38
NC_000007.13:g.142459840G>C , CM000669.1:g.142459840G>C	GRCh37
NC_000007.12:g.142139414G>C	NCBI36
NG_008307.3:g.7506G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.416G>C (PRSS1) MANE Select	ENSP00000308720.7:p.Cys139Ser
ENST00000311737.11:c.416G>C (PRSS1)	ENSP00000308720.7:p.Cys139Ser
ENST00000463701.1:n.880G>C (PRSS1)
ENST00000485223.1:n.1414G>C (PRSS1)
ENST00000486171.5:c.458G>C (PRSS1)	ENSP00000417854.1:p.Cys153Ser
ENST00000492062.1:c.266G>C (PRSS1)	ENSP00000419912.1:p.Cys89Ser
ENST00000610416.2:c.370+30803G>C (TRBC1)	ENSP00000482915.1:n.370+30803G>C
ENST00000612126.4:c.416G>C (PRSS1)	ENSP00000479959.1:p.Cys139Ser
ENST00000619214.4:c.386G>C (PRSS1)	ENSP00000481361.1:p.Cys129Ser
ENST00000633114.1:c.321+95G>C (PRSS2)	ENSP00000487822.1:n.321+95G>C
ENST00000634019.1:c.82+3198G>C (PRSS2)	ENSP00000488594.1:n.82+3198G>C
NM_002769.4:c.416G>C (PRSS1)	NP_002760.1:p.Cys139Ser
XM_011516411.1:c.1091G>C (PRSS1)	XP_011514713.1:p.Cys364Ser
NM_002769.5:c.416G>C (PRSS1) MANE Select	NP_002760.1:p.Cys139Ser
NR_172947.1:n.358G>C (PRSS1)
NR_172948.1:n.355G>C (PRSS1)
NR_172949.1:n.355G>C (PRSS1)
NR_172950.1:n.269G>C (PRSS1)
NR_172951.1:n.203G>C (PRSS1)