Canonical Allele Identifier: CA4529955

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 459184
• ClinVar RCV Id: RCV001755813 ; RCV000757693
• dbSNP Id: rs117497341
• ExAC: 7:142459834 C / T
• gnomAD v2: 7-142459834-C-T
• gnomAD v3: 7-142751983-C-T
• gnomAD v4: 7-142751983-C-T
• COSMIC: COSM32828
• MyVariant Identifiers: chr7:g.142459834C>T (hg19) ; chr7:g.142751983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751983C>T , CM000669.2:g.142751983C>T	GRCh38
NC_000007.13:g.142459834C>T , CM000669.1:g.142459834C>T	GRCh37
NC_000007.12:g.142139408C>T	NCBI36
NG_008307.3:g.7500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.410C>T (PRSS1) MANE Select	ENSP00000308720.7:p.Thr137Met
ENST00000311737.11:c.410C>T (PRSS1)	ENSP00000308720.7:p.Thr137Met
ENST00000463701.1:n.874C>T (PRSS1)
ENST00000485223.1:n.1408C>T (PRSS1)
ENST00000486171.5:c.452C>T (PRSS1)	ENSP00000417854.1:p.Thr151Met
ENST00000492062.1:c.260C>T (PRSS1)	ENSP00000419912.1:p.Thr87Met
ENST00000610416.2:c.370+30797C>T (TRBC1)	ENSP00000482915.1:n.370+30797C>T
ENST00000612126.4:c.410C>T (PRSS1)	ENSP00000479959.1:p.Thr137Met
ENST00000619214.4:c.380C>T (PRSS1)	ENSP00000481361.1:p.Thr127Met
ENST00000633114.1:c.321+89C>T (PRSS2)	ENSP00000487822.1:n.321+89C>T
ENST00000634019.1:c.82+3192C>T (PRSS2)	ENSP00000488594.1:n.82+3192C>T
NM_002769.4:c.410C>T (PRSS1)	NP_002760.1:p.Thr137Met
XM_011516411.1:c.1085C>T (PRSS1)	XP_011514713.1:p.Thr362Met
NM_002769.5:c.410C>T (PRSS1) MANE Select	NP_002760.1:p.Thr137Met
NR_172947.1:n.352C>T (PRSS1)
NR_172948.1:n.349C>T (PRSS1)
NR_172949.1:n.349C>T (PRSS1)
NR_172950.1:n.263C>T (PRSS1)
NR_172951.1:n.197C>T (PRSS1)