Canonical Allele Identifier: CA4530153

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 258803
• ClinVar RCV Id: RCV000248971 ; RCV001285483
• dbSNP Id: rs6667
• ExAC: 7:142460865 T / C
• gnomAD v2: 7-142460865-T-C
• gnomAD v3: 7-142753014-T-C
• gnomAD v4: 7-142753014-T-C
• MyVariant Identifiers: chr7:g.142460865T>C (hg19) ; chr7:g.142753014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142753014T>C , CM000669.2:g.142753014T>C	GRCh38
NC_000007.13:g.142460865T>C , CM000669.1:g.142460865T>C	GRCh37
NG_008307.3:g.8531T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.738T>C (PRSS1) MANE Select	ENSP00000308720.7:p.Asn246=
ENST00000311737.11:c.738T>C (PRSS1)	ENSP00000308720.7:p.Asn246=
ENST00000463701.1:n.1202T>C (PRSS1)
ENST00000486171.5:c.780T>C (PRSS1)	ENSP00000417854.1:p.Asn260=
ENST00000492062.1:c.571T>C (PRSS1)	ENSP00000419912.1:n.571T>C
ENST00000610416.2:c.370+31828T>C (TRBC1)	ENSP00000482915.1:n.370+31828T>C
ENST00000612126.4:c.591+447T>C (PRSS1)	ENSP00000479959.1:n.591+447T>C
ENST00000619214.4:c.708T>C (PRSS1)	ENSP00000481361.1:p.Asn236=
ENST00000633114.1:c.321+1120T>C (PRSS2)	ENSP00000487822.1:n.321+1120T>C
ENST00000634019.1:c.82+4223T>C (PRSS2)	ENSP00000488594.1:n.82+4223T>C
NM_002769.4:c.738T>C (PRSS1)	NP_002760.1:p.Asn246=
XM_011516411.1:c.1413T>C (PRSS1)	XP_011514713.1:p.Asn471=
NM_002769.5:c.738T>C (PRSS1) MANE Select	NP_002760.1:p.Asn246=
NR_172947.1:n.680T>C (PRSS1)
NR_172948.1:n.677T>C (PRSS1)
NR_172949.1:n.677T>C (PRSS1)
NR_172950.1:n.591T>C (PRSS1)
NR_172951.1:n.525T>C (PRSS1)