Canonical Allele Identifier: CA578432642

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• dbSNP Id: rs1020843866
• gnomAD v2: 7-142457587-A-C
• gnomAD v3: 7-142749736-A-C
• gnomAD v4: 7-142749736-A-C
• MyVariant Identifiers: chr7:g.142457587A>C (hg19) ; chr7:g.142749736A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142749736A>C , CM000669.2:g.142749736A>C	GRCh38
NC_000007.13:g.142457587A>C , CM000669.1:g.142457587A>C	GRCh37
NC_000007.12:g.142137161A>C	NCBI36
NG_008307.3:g.5253A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311737.12:c.40+212A>C (PRSS1) MANE Select	ENSP00000308720.7:n.40+212A>C
ENST00000311737.11:c.40+212A>C (PRSS1)	ENSP00000308720.7:n.40+212A>C
ENST00000485223.1:n.53+212A>C (PRSS1)
ENST00000486171.5:c.40+212A>C (PRSS1)	ENSP00000417854.1:n.40+212A>C
ENST00000497041.1:n.44+212A>C (PRSS1)
ENST00000610416.2:c.370+28550A>C (TRBC1)	ENSP00000482915.1:n.370+28550A>C
ENST00000612126.4:c.40+212A>C (PRSS1)	ENSP00000479959.1:n.40+212A>C
ENST00000619214.4:c.40+212A>C (PRSS1)	ENSP00000481361.1:n.40+212A>C
ENST00000633114.1:c.40+212A>C (PRSS2)	ENSP00000487822.1:n.40+212A>C
ENST00000634019.1:c.82+945A>C (PRSS2)	ENSP00000488594.1:n.82+945A>C
NM_002769.4:c.40+212A>C (PRSS1)	NP_002760.1:n.40+212A>C
XM_011516411.1:c.715+212A>C (PRSS1)	XP_011514713.1:n.715+212A>C
NM_002769.5:c.40+212A>C (PRSS1) MANE Select	NP_002760.1:n.40+212A>C
NR_172947.1:n.53+212A>C (PRSS1)
NR_172948.1:n.53+212A>C (PRSS1)
NR_172949.1:n.53+212A>C (PRSS1)
NR_172950.1:n.53+212A>C (PRSS1)
NR_172951.1:n.53+212A>C (PRSS1)