Canonical Allele Identifier: CA390259260

Gene: GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67122331C>T , CM000676.2:g.67122331C>T	GRCh38
NC_000014.8:g.67589048C>T , CM000676.1:g.67589048C>T	GRCh37
NC_000014.7:g.66658801C>T	NCBI36
NG_008875.1:g.619924C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020806.5:c.1702C>T MANE Select	NP_065857.1:p.Gln568Ter
ENST00000478722.6:c.1702C>T MANE Select	ENSP00000417901.1:p.Gln568Ter
NM_001024218.1:c.1603C>T	NP_001019389.1:p.Gln535Ter
NM_001024218.2:c.1603C>T	NP_001019389.1:p.Gln535Ter
NM_001377514.1:c.1762C>T	NP_001364443.1:p.Gln588Ter
NM_001377515.1:c.1732C>T	NP_001364444.1:p.Gln578Ter
NM_001377516.1:c.1723C>T	NP_001364445.1:p.Gln575Ter
NM_001377517.1:c.1675C>T	NP_001364446.1:p.Gln559Ter
NM_001377518.1:c.1660C>T	NP_001364447.1:p.Gln554Ter
NM_001377519.1:c.1642C>T	NP_001364448.1:p.Gln548Ter
NM_020806.4:c.1702C>T	NP_065857.1:p.Gln568Ter
ENST00000315266.9:c.1603C>T	ENSP00000312771.5:p.Gln535Ter
ENST00000478722.5:c.1702C>T	ENSP00000417901.1:p.Gln568Ter
ENST00000543237.5:c.1741C>T	ENSP00000438404.1:p.Gln581Ter
ENST00000544752.6:n.1750C>T
ENST00000555503.1:c.178C>T	ENSP00000452009.1:p.Gln60Ter
ENST00000555527.1:n.235C>T
XM_005267254.2:c.1660C>T	XP_005267311.1:p.Gln554Ter
XM_005267254.4:c.1660C>T	XP_005267311.1:p.Gln554Ter
XM_011536340.1:c.1870C>T	XP_011534642.1:p.Gln624Ter
XM_011536340.3:c.1870C>T	XP_011534642.1:p.Gln624Ter
XM_011536342.1:c.1831C>T	XP_011534644.1:p.Gln611Ter
XM_011536342.3:c.1831C>T	XP_011534644.1:p.Gln611Ter
XM_011536343.1:c.1798C>T	XP_011534645.1:p.Gln600Ter
XM_011536343.3:c.1798C>T	XP_011534645.1:p.Gln600Ter
XM_011536344.1:c.1771C>T	XP_011534646.1:p.Gln591Ter
XM_011536344.3:c.1771C>T	XP_011534646.1:p.Gln591Ter
XM_011536345.1:c.1741C>T	XP_011534647.1:p.Gln581Ter
XM_011536345.3:c.1741C>T	XP_011534647.1:p.Gln581Ter
XM_011536346.1:c.1732C>T	XP_011534648.1:p.Gln578Ter
XM_011536346.3:c.1732C>T	XP_011534648.1:p.Gln578Ter
XM_011536347.1:c.1642C>T	XP_011534649.1:p.Gln548Ter
XM_011536347.2:c.1642C>T	XP_011534649.1:p.Gln548Ter
XM_011536348.1:c.853C>T	XP_011534650.1:p.Gln285Ter
XM_017020913.2:c.1861C>T	XP_016876402.1:p.Gln621Ter
XM_017020914.2:c.1813C>T	XP_016876403.1:p.Gln605Ter
XM_017020915.2:c.1762C>T	XP_016876404.1:p.Gln588Ter
XM_017020916.2:c.1723C>T	XP_016876405.1:p.Gln575Ter
XM_017020917.2:c.1714C>T	XP_016876406.1:p.Gln572Ter
XM_017020918.2:c.1699C>T	XP_016876407.1:p.Gln567Ter
XM_017020919.2:c.1675C>T	XP_016876408.1:p.Gln559Ter
XM_017020920.2:c.1561C>T	XP_016876409.1:p.Gln521Ter
XM_017020921.1:c.1501C>T	XP_016876410.1:p.Gln501Ter
XM_017020922.1:c.1501C>T	XP_016876411.1:p.Gln501Ter
XM_017020923.1:c.1372C>T	XP_016876412.1:p.Gln458Ter
XM_017020924.1:c.853C>T	XP_016876413.1:p.Gln285Ter
XM_017020925.2:c.1312+63545C>T	XP_016876414.1:n.1312+63545C>T
XM_017020926.1:c.781C>T	XP_016876415.1:p.Gln261Ter
XR_001750989.2:n.3101-13869G>A
XR_001750990.1:n.177-13869G>A
XR_943947.1:n.214-13869G>A
XR_943948.1:n.884-13869G>A