Canonical Allele Identifier: CA390257779

Gene: GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67100913T>G , CM000676.2:g.67100913T>G	GRCh38
NC_000014.8:g.67567630T>G , CM000676.1:g.67567630T>G	GRCh37
NC_000014.7:g.66637383T>G	NCBI36
NG_008875.1:g.598506T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020806.5:c.1293+2T>G MANE Select	NP_065857.1:n.1293+2T>G
ENST00000478722.6:c.1293+2T>G MANE Select	ENSP00000417901.1:n.1293+2T>G
NM_001024218.1:c.1194+2T>G	NP_001019389.1:n.1194+2T>G
NM_001024218.2:c.1194+2T>G	NP_001019389.1:n.1194+2T>G
NM_001377514.1:c.1353+2T>G	NP_001364443.1:n.1353+2T>G
NM_001377515.1:c.1323+2T>G	NP_001364444.1:n.1323+2T>G
NM_001377516.1:c.1314+2T>G	NP_001364445.1:n.1314+2T>G
NM_001377517.1:c.1266+2T>G	NP_001364446.1:n.1266+2T>G
NM_001377518.1:c.1251+2T>G	NP_001364447.1:n.1251+2T>G
NM_001377519.1:c.1233+2T>G	NP_001364448.1:n.1233+2T>G
NM_020806.4:c.1293+2T>G	NP_065857.1:n.1293+2T>G
ENST00000315266.9:c.1194+2T>G	ENSP00000312771.5:n.1194+2T>G
ENST00000478722.5:c.1293+2T>G	ENSP00000417901.1:n.1293+2T>G
ENST00000543237.5:c.1332+2T>G	ENSP00000438404.1:n.1332+2T>G
ENST00000544752.6:n.1341+2T>G
ENST00000556501.1:n.287+2T>G
XM_005267254.2:c.1251+2T>G	XP_005267311.1:n.1251+2T>G
XM_005267254.4:c.1251+2T>G	XP_005267311.1:n.1251+2T>G
XM_011536340.1:c.1461+2T>G	XP_011534642.1:n.1461+2T>G
XM_011536340.3:c.1461+2T>G	XP_011534642.1:n.1461+2T>G
XM_011536342.1:c.1422+2T>G	XP_011534644.1:n.1422+2T>G
XM_011536342.3:c.1422+2T>G	XP_011534644.1:n.1422+2T>G
XM_011536343.1:c.1389+2T>G	XP_011534645.1:n.1389+2T>G
XM_011536343.3:c.1389+2T>G	XP_011534645.1:n.1389+2T>G
XM_011536344.1:c.1362+2T>G	XP_011534646.1:n.1362+2T>G
XM_011536344.3:c.1362+2T>G	XP_011534646.1:n.1362+2T>G
XM_011536345.1:c.1332+2T>G	XP_011534647.1:n.1332+2T>G
XM_011536345.3:c.1332+2T>G	XP_011534647.1:n.1332+2T>G
XM_011536346.1:c.1323+2T>G	XP_011534648.1:n.1323+2T>G
XM_011536346.3:c.1323+2T>G	XP_011534648.1:n.1323+2T>G
XM_011536347.1:c.1233+2T>G	XP_011534649.1:n.1233+2T>G
XM_011536347.2:c.1233+2T>G	XP_011534649.1:n.1233+2T>G
XM_011536348.1:c.444+2T>G	XP_011534650.1:n.444+2T>G
XM_017020913.2:c.1452+2T>G	XP_016876402.1:n.1452+2T>G
XM_017020914.2:c.1404+2T>G	XP_016876403.1:n.1404+2T>G
XM_017020915.2:c.1353+2T>G	XP_016876404.1:n.1353+2T>G
XM_017020916.2:c.1314+2T>G	XP_016876405.1:n.1314+2T>G
XM_017020917.2:c.1305+2T>G	XP_016876406.1:n.1305+2T>G
XM_017020918.2:c.1290+2T>G	XP_016876407.1:n.1290+2T>G
XM_017020919.2:c.1266+2T>G	XP_016876408.1:n.1266+2T>G
XM_017020920.2:c.1152+2T>G	XP_016876409.1:n.1152+2T>G
XM_017020921.1:c.1092+2T>G	XP_016876410.1:n.1092+2T>G
XM_017020922.1:c.1092+2T>G	XP_016876411.1:n.1092+2T>G
XM_017020923.1:c.963+2T>G	XP_016876412.1:n.963+2T>G
XM_017020924.1:c.444+2T>G	XP_016876413.1:n.444+2T>G
XM_017020925.2:c.1312+42127T>G	XP_016876414.1:n.1312+42127T>G
XM_017020926.1:c.372+2T>G	XP_016876415.1:n.372+2T>G
XR_001750989.2:n.3190-556A>C
XR_001750990.1:n.266-556A>C
XR_943947.1:n.303-556A>C
XR_943948.1:n.973-556A>C