Canonical Allele Identifier: CA486943550

Gene: GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67122256C>T , CM000676.2:g.67122256C>T	GRCh38
NC_000014.8:g.67588973C>T , CM000676.1:g.67588973C>T	GRCh37
NC_000014.7:g.66658726C>T	NCBI36
NG_008875.1:g.619849C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020806.5:c.1627C>T MANE Select	NP_065857.1:p.Leu543=
ENST00000478722.6:c.1627C>T MANE Select	ENSP00000417901.1:p.Leu543=
NM_001024218.1:c.1528C>T	NP_001019389.1:p.Leu510=
NM_001024218.2:c.1528C>T	NP_001019389.1:p.Leu510=
NM_001377514.1:c.1687C>T	NP_001364443.1:p.Leu563=
NM_001377515.1:c.1657C>T	NP_001364444.1:p.Leu553=
NM_001377516.1:c.1648C>T	NP_001364445.1:p.Leu550=
NM_001377517.1:c.1600C>T	NP_001364446.1:p.Leu534=
NM_001377518.1:c.1585C>T	NP_001364447.1:p.Leu529=
NM_001377519.1:c.1567C>T	NP_001364448.1:p.Leu523=
NM_020806.4:c.1627C>T	NP_065857.1:p.Leu543=
ENST00000315266.9:c.1528C>T	ENSP00000312771.5:p.Leu510=
ENST00000478722.5:c.1627C>T	ENSP00000417901.1:p.Leu543=
ENST00000543237.5:c.1666C>T	ENSP00000438404.1:p.Leu556=
ENST00000544752.6:n.1675C>T
ENST00000555503.1:c.103C>T	ENSP00000452009.1:p.Leu35=
ENST00000555527.1:n.160C>T
XM_005267254.2:c.1585C>T	XP_005267311.1:p.Leu529=
XM_005267254.4:c.1585C>T	XP_005267311.1:p.Leu529=
XM_011536340.1:c.1795C>T	XP_011534642.1:p.Leu599=
XM_011536340.3:c.1795C>T	XP_011534642.1:p.Leu599=
XM_011536342.1:c.1756C>T	XP_011534644.1:p.Leu586=
XM_011536342.3:c.1756C>T	XP_011534644.1:p.Leu586=
XM_011536343.1:c.1723C>T	XP_011534645.1:p.Leu575=
XM_011536343.3:c.1723C>T	XP_011534645.1:p.Leu575=
XM_011536344.1:c.1696C>T	XP_011534646.1:p.Leu566=
XM_011536344.3:c.1696C>T	XP_011534646.1:p.Leu566=
XM_011536345.1:c.1666C>T	XP_011534647.1:p.Leu556=
XM_011536345.3:c.1666C>T	XP_011534647.1:p.Leu556=
XM_011536346.1:c.1657C>T	XP_011534648.1:p.Leu553=
XM_011536346.3:c.1657C>T	XP_011534648.1:p.Leu553=
XM_011536347.1:c.1567C>T	XP_011534649.1:p.Leu523=
XM_011536347.2:c.1567C>T	XP_011534649.1:p.Leu523=
XM_011536348.1:c.778C>T	XP_011534650.1:p.Leu260=
XM_017020913.2:c.1786C>T	XP_016876402.1:p.Leu596=
XM_017020914.2:c.1738C>T	XP_016876403.1:p.Leu580=
XM_017020915.2:c.1687C>T	XP_016876404.1:p.Leu563=
XM_017020916.2:c.1648C>T	XP_016876405.1:p.Leu550=
XM_017020917.2:c.1639C>T	XP_016876406.1:p.Leu547=
XM_017020918.2:c.1624C>T	XP_016876407.1:p.Leu542=
XM_017020919.2:c.1600C>T	XP_016876408.1:p.Leu534=
XM_017020920.2:c.1486C>T	XP_016876409.1:p.Leu496=
XM_017020921.1:c.1426C>T	XP_016876410.1:p.Leu476=
XM_017020922.1:c.1426C>T	XP_016876411.1:p.Leu476=
XM_017020923.1:c.1297C>T	XP_016876412.1:p.Leu433=
XM_017020924.1:c.778C>T	XP_016876413.1:p.Leu260=
XM_017020925.2:c.1312+63470C>T	XP_016876414.1:n.1312+63470C>T
XM_017020926.1:c.706C>T	XP_016876415.1:p.Leu236=
XR_001750989.2:n.3101-13794G>A
XR_001750990.1:n.177-13794G>A
XR_943947.1:n.214-13794G>A
XR_943948.1:n.884-13794G>A