Canonical Allele Identifier: CA369609194

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• dbSNP Id: rs1221038304
• gnomAD v2: 7-142459857-G-C
• gnomAD v3: 7-142752006-G-C
• gnomAD v4: 7-142752006-G-C
• MyVariant Identifiers: chr7:g.142459857G>C (hg19) ; chr7:g.142752006G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142752006G>C , CM000669.2:g.142752006G>C	GRCh38
NC_000007.13:g.142459857G>C , CM000669.1:g.142459857G>C	GRCh37
NC_000007.12:g.142139431G>C	NCBI36
NG_008307.3:g.7523G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.433G>C (PRSS1) MANE Select	ENSP00000308720.7:p.Gly145Arg
ENST00000311737.11:c.433G>C (PRSS1)	ENSP00000308720.7:p.Gly145Arg
ENST00000463701.1:n.897G>C (PRSS1)
ENST00000485223.1:n.1431G>C (PRSS1)
ENST00000486171.5:c.475G>C (PRSS1)	ENSP00000417854.1:p.Gly159Arg
ENST00000492062.1:c.283G>C (PRSS1)	ENSP00000419912.1:p.Gly95Arg
ENST00000610416.2:c.370+30820G>C (TRBC1)	ENSP00000482915.1:n.370+30820G>C
ENST00000612126.4:c.433G>C (PRSS1)	ENSP00000479959.1:p.Gly145Arg
ENST00000619214.4:c.403G>C (PRSS1)	ENSP00000481361.1:p.Gly135Arg
ENST00000633114.1:c.321+112G>C (PRSS2)	ENSP00000487822.1:n.321+112G>C
ENST00000634019.1:c.82+3215G>C (PRSS2)	ENSP00000488594.1:n.82+3215G>C
NM_002769.4:c.433G>C (PRSS1)	NP_002760.1:p.Gly145Arg
XM_011516411.1:c.1108G>C (PRSS1)	XP_011514713.1:p.Gly370Arg
NM_002769.5:c.433G>C (PRSS1) MANE Select	NP_002760.1:p.Gly145Arg
NR_172947.1:n.375G>C (PRSS1)
NR_172948.1:n.372G>C (PRSS1)
NR_172949.1:n.372G>C (PRSS1)
NR_172950.1:n.286G>C (PRSS1)
NR_172951.1:n.220G>C (PRSS1)