Canonical Allele Identifier: CA10486482
Community Standard Title: NM_182607.5(VSIG1):c.314A>T (p.His105Leu)
Gene: VSIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108067036A>T , CM000685.2:g.108067036A>T GRCh38
NC_000023.10:g.107310266A>T , CM000685.1:g.107310266A>T GRCh37
NC_000023.9:g.107196922A>T NCBI36
NG_016264.1:g.27067A>T

Transcript Alleles

HGVS Amino-acid Change
NM_182607.5:c.314A>T MANE Select NP_872413.1:p.His105Leu
ENST00000217957.10:c.314A>T MANE Select ENSP00000217957.3:p.His105Leu
NM_001170553.1:c.422A>T NP_001164024.1:p.His141Leu
NM_001170553.2:c.422A>T NP_001164024.1:p.His141Leu
NM_182607.4:c.314A>T NP_872413.1:p.His105Leu
ENST00000217957.9:c.314A>T ENSP00000217957.3:p.His105Leu
ENST00000415430.7:c.422A>T ENSP00000402219.3:p.His141Leu
ENST00000458383.1:c.422A>T ENSP00000407102.1:p.His141Leu
ENST00000485533.1:n.150A>T
XM_005262127.3:c.500A>T XP_005262184.1:p.His167Leu
XM_005262127.4:c.500A>T XP_005262184.1:p.His167Leu
XM_011530936.1:c.479A>T XP_011529238.1:p.His160Leu
XM_011530936.2:c.479A>T XP_011529238.1:p.His160Leu
XM_011530937.1:c.392A>T XP_011529239.1:p.His131Leu