Canonical Allele Identifier: CA4529954

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• dbSNP Id: rs751042949
• ExAC: 7:142459829 T / G
• gnomAD v2: 7-142459829-T-G
• gnomAD v4: 7-142751978-T-G
• MyVariant Identifiers: chr7:g.142459829T>G (hg19) ; chr7:g.142751978T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751978T>G , CM000669.2:g.142751978T>G	GRCh38
NC_000007.13:g.142459829T>G , CM000669.1:g.142459829T>G	GRCh37
NC_000007.12:g.142139403T>G	NCBI36
NG_008307.3:g.7495T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000311737.12:c.405T>G (PRSS1) MANE Select	ENSP00000308720.7:p.Thr135=
ENST00000311737.11:c.405T>G (PRSS1)	ENSP00000308720.7:p.Thr135=
ENST00000463701.1:n.869T>G (PRSS1)
ENST00000485223.1:n.1403T>G (PRSS1)
ENST00000486171.5:c.447T>G (PRSS1)	ENSP00000417854.1:p.Thr149=
ENST00000492062.1:c.255T>G (PRSS1)	ENSP00000419912.1:p.Thr85=
ENST00000610416.2:c.370+30792T>G (TRBC1)	ENSP00000482915.1:n.370+30792T>G
ENST00000612126.4:c.405T>G (PRSS1)	ENSP00000479959.1:p.Thr135=
ENST00000619214.4:c.375T>G (PRSS1)	ENSP00000481361.1:p.Thr125=
ENST00000633114.1:c.321+84T>G (PRSS2)	ENSP00000487822.1:n.321+84T>G
ENST00000634019.1:c.82+3187T>G (PRSS2)	ENSP00000488594.1:n.82+3187T>G
NM_002769.4:c.405T>G (PRSS1)	NP_002760.1:p.Thr135=
XM_011516411.1:c.1080T>G (PRSS1)	XP_011514713.1:p.Thr360=
NM_002769.5:c.405T>G (PRSS1) MANE Select	NP_002760.1:p.Thr135=
NR_172947.1:n.347T>G (PRSS1)
NR_172948.1:n.344T>G (PRSS1)
NR_172949.1:n.344T>G (PRSS1)
NR_172950.1:n.258T>G (PRSS1)
NR_172951.1:n.192T>G (PRSS1)