Canonical Allele Identifier: CA1201688718
Gene: PYHIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158962765C>A , CM000663.2:g.158962765C>A GRCh38
NC_000001.10:g.158932555C>A , CM000663.1:g.158932555C>A GRCh37
NC_000001.9:g.157199179C>A NCBI36
NG_029756.1:g.36219C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368140.6:c.1360-10882C>A MANE Select ENSP00000357122.1:n.1360-10882C>A
ENST00000368138.7:c.1333-10882C>A ENSP00000357120.3:n.1333-10882C>A
ENST00000368140.5:c.1360-10882C>A ENSP00000357122.1:n.1360-10882C>A
ENST00000392252.7:c.1333-13936C>A ENSP00000376082.3:n.1333-13936C>A
ENST00000392254.6:c.1360-13936C>A ENSP00000376083.2:n.1360-13936C>A
NM_152501.4:c.1360-10882C>A NP_689714.2:n.1360-10882C>A
NM_198928.4:c.1333-10882C>A NP_945146.1:n.1333-10882C>A
NM_198929.4:c.1360-13936C>A NP_945147.1:n.1360-13936C>A
NM_198930.3:c.1333-13936C>A NP_945148.1:n.1333-13936C>A
XM_011509242.1:c.1360-10882C>A XP_011507544.1:n.1360-10882C>A
XM_011509243.1:c.1359+17723C>A XP_011507545.1:n.1359+17723C>A
XM_011509242.2:c.1360-10882C>A XP_011507544.1:n.1360-10882C>A
XM_011509243.2:c.1359+17723C>A XP_011507545.1:n.1359+17723C>A
XM_017000463.1:c.1359+17723C>A XP_016855952.1:n.1359+17723C>A
XR_001737000.1:n.1610-13936C>A
XR_001737001.1:n.1953-13936C>A
XR_001737002.1:n.1351-10882C>A
NM_152501.5:c.1360-10882C>A MANE Select NP_689714.2:n.1360-10882C>A
NM_198928.5:c.1333-10882C>A NP_945146.1:n.1333-10882C>A
NM_198929.5:c.1360-13936C>A NP_945147.1:n.1360-13936C>A
NM_198930.4:c.1333-13936C>A NP_945148.1:n.1333-13936C>A