Canonical Allele Identifier: CA390255845

Gene: GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.66916013G>C , CM000676.2:g.66916013G>C	GRCh38
NC_000014.8:g.67382730G>C , CM000676.1:g.67382730G>C	GRCh37
NC_000014.7:g.66452483G>C	NCBI36
NG_008875.1:g.413606G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020806.5:c.400G>C MANE Select	NP_065857.1:p.Gly134Arg
ENST00000478722.6:c.400G>C MANE Select	ENSP00000417901.1:p.Gly134Arg
NM_001024218.1:c.400G>C	NP_001019389.1:p.Gly134Arg
NM_001024218.2:c.400G>C	NP_001019389.1:p.Gly134Arg
NM_001377514.1:c.439G>C	NP_001364443.1:p.Gly147Arg
NM_001377515.1:c.400G>C	NP_001364444.1:p.Gly134Arg
NM_001377516.1:c.400G>C	NP_001364445.1:p.Gly134Arg
NM_001377517.1:c.400G>C	NP_001364446.1:p.Gly134Arg
NM_001377518.1:c.400G>C	NP_001364447.1:p.Gly134Arg
NM_001377519.1:c.439G>C	NP_001364448.1:p.Gly147Arg
NM_020806.4:c.400G>C	NP_065857.1:p.Gly134Arg
ENST00000315266.9:c.400G>C	ENSP00000312771.5:p.Gly134Arg
ENST00000459628.5:c.346G>C	ENSP00000452220.1:p.Gly116Arg
ENST00000478722.5:c.400G>C	ENSP00000417901.1:p.Gly134Arg
ENST00000543237.5:c.439G>C	ENSP00000438404.1:p.Gly147Arg
ENST00000544752.6:n.448G>C
ENST00000553936.5:c.*421G>C	ENSP00000451725.1:n.*421G>C
ENST00000555456.1:c.199G>C	ENSP00000450706.1:p.Gly67Arg
ENST00000556633.5:c.*189G>C	ENSP00000451056.1:n.*189G>C
XM_005267254.2:c.400G>C	XP_005267311.1:p.Gly134Arg
XM_005267254.4:c.400G>C	XP_005267311.1:p.Gly134Arg
XM_011536340.1:c.439G>C	XP_011534642.1:p.Gly147Arg
XM_011536340.3:c.439G>C	XP_011534642.1:p.Gly147Arg
XM_011536342.1:c.400G>C	XP_011534644.1:p.Gly134Arg
XM_011536342.3:c.400G>C	XP_011534644.1:p.Gly134Arg
XM_011536343.1:c.439G>C	XP_011534645.1:p.Gly147Arg
XM_011536343.3:c.439G>C	XP_011534645.1:p.Gly147Arg
XM_011536344.1:c.439G>C	XP_011534646.1:p.Gly147Arg
XM_011536344.3:c.439G>C	XP_011534646.1:p.Gly147Arg
XM_011536345.1:c.439G>C	XP_011534647.1:p.Gly147Arg
XM_011536345.3:c.439G>C	XP_011534647.1:p.Gly147Arg
XM_011536346.1:c.400G>C	XP_011534648.1:p.Gly134Arg
XM_011536346.3:c.400G>C	XP_011534648.1:p.Gly134Arg
XM_011536347.1:c.439G>C	XP_011534649.1:p.Gly147Arg
XM_011536347.2:c.439G>C	XP_011534649.1:p.Gly147Arg
XM_011536349.1:c.439G>C	XP_011534651.1:p.Gly147Arg
XM_017020913.2:c.439G>C	XP_016876402.1:p.Gly147Arg
XM_017020914.2:c.439G>C	XP_016876403.1:p.Gly147Arg
XM_017020915.2:c.439G>C	XP_016876404.1:p.Gly147Arg
XM_017020916.2:c.400G>C	XP_016876405.1:p.Gly134Arg
XM_017020917.2:c.439G>C	XP_016876406.1:p.Gly147Arg
XM_017020918.2:c.439G>C	XP_016876407.1:p.Gly147Arg
XM_017020919.2:c.400G>C	XP_016876408.1:p.Gly134Arg
XM_017020920.2:c.259G>C	XP_016876409.1:p.Gly87Arg
XM_017020921.1:c.70G>C	XP_016876410.1:p.Gly24Arg
XM_017020922.1:c.70G>C	XP_016876411.1:p.Gly24Arg
XM_017020923.1:c.70G>C	XP_016876412.1:p.Gly24Arg
XM_017020924.1:c.-573G>C	XP_016876413.1:n.-573G>C
XM_017020925.2:c.439G>C	XP_016876414.1:p.Gly147Arg
XM_017020926.1:c.-573G>C	XP_016876415.1:n.-573G>C