Canonical Allele Identifier: CA2662343687

Gene: PMS1

Linked Data

• gnomAD v4: 2-189784612-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784612C>G , CM000664.2:g.189784612C>G	GRCh38
NC_000002.11:g.190649338C>G , CM000664.1:g.190649338C>G	GRCh37
NC_000002.10:g.190357583C>G	NCBI36
NG_008648.1:g.5528C>G , LRG_221:g.5528C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000441310.7:c.-21+19C>G MANE Select	ENSP00000406490.3:n.-21+19C>G
ENST00000639501.1:c.-21+19C>G	ENSP00000491236.1:n.-21+19C>G
ENST00000342075.8:c.-21+19C>G	ENSP00000343888.4:n.-21+19C>G
ENST00000374826.8:c.-21+19C>G	ENSP00000363959.4:n.-21+19C>G
ENST00000409823.7:c.-21+19C>G	ENSP00000387125.3:n.-21+19C>G
ENST00000409985.5:c.-21+19C>G	ENSP00000386623.1:n.-21+19C>G
ENST00000418224.7:c.-21+19C>G	ENSP00000404492.4:n.-21+19C>G
ENST00000421722.5:n.66+19C>G
ENST00000424766.5:c.-179C>G	ENSP00000410082.1:n.-179C>G
ENST00000432292.7:c.-263+19C>G	ENSP00000398378.3:n.-263+19C>G
ENST00000441310.6:c.-21+19C>G	ENSP00000406490.2:n.-21+19C>G
ENST00000446877.5:c.-305C>G	ENSP00000413837.1:n.-305C>G
ENST00000447232.6:c.-21+19C>G	ENSP00000401064.2:n.-21+19C>G
ENST00000447734.5:c.-21+19C>G	ENSP00000411151.1:n.-21+19C>G
ENST00000450931.5:c.-147+48C>G	ENSP00000406225.1:n.-147+48C>G
ENST00000618056.4:c.-21+19C>G	ENSP00000480632.1:n.-21+19C>G
ENST00000624204.3:c.-446+19C>G	ENSP00000485312.1:n.-446+19C>G
NM_000534.4:c.-21+19C>G , LRG_221t1:c.-21+19C>G	NP_000525.1:n.-21+19C>G
NM_001128143.1:c.-21+19C>G	NP_001121615.1:n.-21+19C>G
NM_001128144.1:c.-21+19C>G	NP_001121616.1:n.-21+19C>G
NM_001289408.1:c.-446+19C>G	NP_001276337.1:n.-446+19C>G
NM_001289409.1:c.-263+19C>G	NP_001276338.1:n.-263+19C>G
NR_110332.1:n.480+48C>G
XM_005246647.2:c.-147+19C>G	XP_005246704.1:n.-147+19C>G
XM_005246649.2:c.-21+19C>G	XP_005246706.1:n.-21+19C>G
XM_011511353.1:c.-179C>G	XP_011509655.1:n.-179C>G
XM_011511354.1:c.-147+48C>G	XP_011509656.1:n.-147+48C>G
XM_011511355.1:c.-21+19C>G	XP_011509657.1:n.-21+19C>G
XM_011511357.1:c.-21+19C>G	XP_011509659.1:n.-21+19C>G
XR_922951.1:n.144+19C>G
NM_001321044.1:c.-21+19C>G	NP_001307973.1:n.-21+19C>G
NM_001321045.1:c.-147+19C>G	NP_001307974.1:n.-147+19C>G
NM_001321046.1:c.-21+19C>G	NP_001307975.1:n.-21+19C>G
NM_001321047.1:c.-179C>G	NP_001307976.1:n.-179C>G
NM_001321048.1:c.-147+48C>G	NP_001307977.1:n.-147+48C>G
NM_001321049.1:c.-21+19C>G	NP_001307978.1:n.-21+19C>G
NM_001321051.1:c.-21+19C>G	NP_001307980.1:n.-21+19C>G
XM_011511356.3:c.-1344+19C>G	XP_011509658.1:n.-1344+19C>G
XM_017004344.1:c.-147+19C>G	XP_016859833.1:n.-147+19C>G
XM_017004345.1:c.-23C>G	XP_016859834.1:n.-23C>G
XM_017004346.2:c.-21+48C>G	XP_016859835.1:n.-21+48C>G
XM_017004347.1:c.-21+19C>G	XP_016859836.1:n.-21+19C>G
XM_017004348.1:c.-179C>G	XP_016859837.1:n.-179C>G
XM_017004349.2:c.-1344+19C>G	XP_016859838.1:n.-1344+19C>G
XM_017004350.1:c.-21+19C>G	XP_016859839.1:n.-21+19C>G
XM_024452964.1:c.-23C>G	XP_024308732.1:n.-23C>G
XM_024452965.1:c.-21+48C>G	XP_024308733.1:n.-21+48C>G
XM_024452966.1:c.-23C>G	XP_024308734.1:n.-23C>G
XM_024452967.1:c.-21+48C>G	XP_024308735.1:n.-21+48C>G
XM_024452968.1:c.-446+48C>G	XP_024308736.1:n.-446+48C>G
XM_024452969.1:c.-446+19C>G	XP_024308737.1:n.-446+19C>G
XR_001738779.1:n.109+19C>G
XR_002959307.1:n.112C>G
XR_922951.2:n.138+19C>G
NM_000534.5:c.-21+19C>G MANE Select	NP_000525.1:n.-21+19C>G
NM_001128143.2:c.-21+19C>G	NP_001121615.1:n.-21+19C>G
NM_001128144.2:c.-21+19C>G	NP_001121616.1:n.-21+19C>G
NM_001321044.2:c.-21+19C>G	NP_001307973.1:n.-21+19C>G
NM_001321045.2:c.-147+19C>G	NP_001307974.1:n.-147+19C>G
NM_001321046.2:c.-21+19C>G	NP_001307975.1:n.-21+19C>G
NM_001321047.2:c.-179C>G	NP_001307976.1:n.-179C>G
NM_001321048.2:c.-147+48C>G	NP_001307977.1:n.-147+48C>G
NM_001321049.2:c.-21+19C>G	NP_001307978.1:n.-21+19C>G
NR_110332.2:n.115+48C>G
NM_001289408.2:c.-446+19C>G	NP_001276337.1:n.-446+19C>G
NM_001289409.2:c.-263+19C>G	NP_001276338.1:n.-263+19C>G
NM_001321051.2:c.-21+19C>G	NP_001307980.1:n.-21+19C>G