Canonical Allele Identifier: CA4529924

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 2503989
• ClinVar RCV Id: RCV003230980
• dbSNP Id: rs201165989
• ExAC: 7:142459749 A / C
• gnomAD v2: 7-142459749-A-C
• gnomAD v3: 7-142751898-A-C
• gnomAD v4: 7-142751898-A-C
• MyVariant Identifiers: chr7:g.142459749A>C (hg19) ; chr7:g.142751898A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751898A>C , CM000669.2:g.142751898A>C	GRCh38
NC_000007.13:g.142459749A>C , CM000669.1:g.142459749A>C	GRCh37
NC_000007.12:g.142139323A>C	NCBI36
NG_008307.3:g.7415A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.325A>C (PRSS1) MANE Select	ENSP00000308720.7:p.Met109Leu
ENST00000311737.11:c.325A>C (PRSS1)	ENSP00000308720.7:p.Met109Leu
ENST00000463701.1:n.789A>C (PRSS1)
ENST00000485223.1:n.1323A>C (PRSS1)
ENST00000486171.5:c.367A>C (PRSS1)	ENSP00000417854.1:p.Met123Leu
ENST00000492062.1:c.175A>C (PRSS1)	ENSP00000419912.1:p.Met59Leu
ENST00000610416.2:c.370+30712A>C (TRBC1)	ENSP00000482915.1:n.370+30712A>C
ENST00000612126.4:c.325A>C (PRSS1)	ENSP00000479959.1:p.Met109Leu
ENST00000619214.4:c.295A>C (PRSS1)	ENSP00000481361.1:p.Met99Leu
ENST00000633114.1:c.321+4A>C (PRSS2)	ENSP00000487822.1:n.321+4A>C
ENST00000634019.1:c.82+3107A>C (PRSS2)	ENSP00000488594.1:n.82+3107A>C
NM_002769.4:c.325A>C (PRSS1)	NP_002760.1:p.Met109Leu
XM_011516411.1:c.1000A>C (PRSS1)	XP_011514713.1:p.Met334Leu
NM_002769.5:c.325A>C (PRSS1) MANE Select	NP_002760.1:p.Met109Leu
NR_172947.1:n.267A>C (PRSS1)
NR_172948.1:n.264A>C (PRSS1)
NR_172949.1:n.264A>C (PRSS1)
NR_172950.1:n.178A>C (PRSS1)
NR_172951.1:n.140-28A>C (PRSS1)