Canonical Allele Identifier: CA390258086

Gene: GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67110261T>G , CM000676.2:g.67110261T>G	GRCh38
NC_000014.8:g.67576978T>G , CM000676.1:g.67576978T>G	GRCh37
NC_000014.7:g.66646731T>G	NCBI36
NG_008875.1:g.607854T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020806.5:c.1413+2T>G MANE Select	NP_065857.1:n.1413+2T>G
ENST00000478722.6:c.1413+2T>G MANE Select	ENSP00000417901.1:n.1413+2T>G
NM_001024218.1:c.1314+2T>G	NP_001019389.1:n.1314+2T>G
NM_001024218.2:c.1314+2T>G	NP_001019389.1:n.1314+2T>G
NM_001377514.1:c.1473+2T>G	NP_001364443.1:n.1473+2T>G
NM_001377515.1:c.1443+2T>G	NP_001364444.1:n.1443+2T>G
NM_001377516.1:c.1434+2T>G	NP_001364445.1:n.1434+2T>G
NM_001377517.1:c.1386+2T>G	NP_001364446.1:n.1386+2T>G
NM_001377518.1:c.1371+2T>G	NP_001364447.1:n.1371+2T>G
NM_001377519.1:c.1353+2T>G	NP_001364448.1:n.1353+2T>G
NM_020806.4:c.1413+2T>G	NP_065857.1:n.1413+2T>G
ENST00000315266.9:c.1314+2T>G	ENSP00000312771.5:n.1314+2T>G
ENST00000478722.5:c.1413+2T>G	ENSP00000417901.1:n.1413+2T>G
ENST00000543237.5:c.1452+2T>G	ENSP00000438404.1:n.1452+2T>G
ENST00000544752.6:n.1461+2T>G
ENST00000556501.1:n.409T>G
XM_005267254.2:c.1371+2T>G	XP_005267311.1:n.1371+2T>G
XM_005267254.4:c.1371+2T>G	XP_005267311.1:n.1371+2T>G
XM_011536340.1:c.1581+2T>G	XP_011534642.1:n.1581+2T>G
XM_011536340.3:c.1581+2T>G	XP_011534642.1:n.1581+2T>G
XM_011536342.1:c.1542+2T>G	XP_011534644.1:n.1542+2T>G
XM_011536342.3:c.1542+2T>G	XP_011534644.1:n.1542+2T>G
XM_011536343.1:c.1509+2T>G	XP_011534645.1:n.1509+2T>G
XM_011536343.3:c.1509+2T>G	XP_011534645.1:n.1509+2T>G
XM_011536344.1:c.1482+2T>G	XP_011534646.1:n.1482+2T>G
XM_011536344.3:c.1482+2T>G	XP_011534646.1:n.1482+2T>G
XM_011536345.1:c.1452+2T>G	XP_011534647.1:n.1452+2T>G
XM_011536345.3:c.1452+2T>G	XP_011534647.1:n.1452+2T>G
XM_011536346.1:c.1443+2T>G	XP_011534648.1:n.1443+2T>G
XM_011536346.3:c.1443+2T>G	XP_011534648.1:n.1443+2T>G
XM_011536347.1:c.1353+2T>G	XP_011534649.1:n.1353+2T>G
XM_011536347.2:c.1353+2T>G	XP_011534649.1:n.1353+2T>G
XM_011536348.1:c.564+2T>G	XP_011534650.1:n.564+2T>G
XM_017020913.2:c.1572+2T>G	XP_016876402.1:n.1572+2T>G
XM_017020914.2:c.1524+2T>G	XP_016876403.1:n.1524+2T>G
XM_017020915.2:c.1473+2T>G	XP_016876404.1:n.1473+2T>G
XM_017020916.2:c.1434+2T>G	XP_016876405.1:n.1434+2T>G
XM_017020917.2:c.1425+2T>G	XP_016876406.1:n.1425+2T>G
XM_017020918.2:c.1410+2T>G	XP_016876407.1:n.1410+2T>G
XM_017020919.2:c.1386+2T>G	XP_016876408.1:n.1386+2T>G
XM_017020920.2:c.1272+2T>G	XP_016876409.1:n.1272+2T>G
XM_017020921.1:c.1212+2T>G	XP_016876410.1:n.1212+2T>G
XM_017020922.1:c.1212+2T>G	XP_016876411.1:n.1212+2T>G
XM_017020923.1:c.1083+2T>G	XP_016876412.1:n.1083+2T>G
XM_017020924.1:c.564+2T>G	XP_016876413.1:n.564+2T>G
XM_017020925.2:c.1312+51475T>G	XP_016876414.1:n.1312+51475T>G
XM_017020926.1:c.492+2T>G	XP_016876415.1:n.492+2T>G
XR_001750989.2:n.3101-1799A>C
XR_001750990.1:n.177-1799A>C
XR_943947.1:n.214-1799A>C
XR_943948.1:n.884-1799A>C