Canonical Allele Identifier: CA3338607
Community Standard Title: NM_032119.4(ADGRV1):c.1070C>T (p.Ser357Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90627608C>T , CM000667.2:g.90627608C>T GRCh38
NC_000005.9:g.89923425C>T , CM000667.1:g.89923425C>T GRCh37
NC_000005.8:g.89959181C>T NCBI36
NG_007083.1:g.73809C>T
NG_007083.2:g.103265C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.1070C>T MANE Select NP_115495.3:p.Ser357Leu
ENST00000405460.9:c.1070C>T MANE Select ENSP00000384582.2:p.Ser357Leu
NM_032119.3:c.1070C>T NP_115495.3:p.Ser357Leu
NR_003149.1:n.1166C>T
NR_003149.2:n.1169C>T
ENST00000405460.6:c.1070C>T ENSP00000384582.2:p.Ser357Leu
ENST00000640083.1:n.775C>T
ENST00000640109.1:n.1166C>T
ENST00000640281.1:n.1129C>T
XM_011543675.1:c.1070C>T XP_011541977.1:p.Ser357Leu
XM_011543676.1:c.1070C>T XP_011541978.1:p.Ser357Leu
XM_011543678.1:c.1070C>T XP_011541980.1:p.Ser357Leu
XM_011543679.1:c.1070C>T XP_011541981.1:p.Ser357Leu
XM_017009963.2:c.1070C>T XP_016865452.1:p.Ser357Leu
XM_017009964.2:c.1070C>T XP_016865453.1:p.Ser357Leu
XM_017009965.1:c.1067C>T XP_016865454.1:p.Ser356Leu
XM_017009966.2:c.1070C>T XP_016865455.1:p.Ser357Leu
XM_017009967.1:c.974C>T XP_016865456.1:p.Ser325Leu
XM_017009968.2:c.1070C>T XP_016865457.1:p.Ser357Leu
XM_017009969.2:c.1070C>T XP_016865458.1:p.Ser357Leu
XM_017009970.2:c.1070C>T XP_016865459.1:p.Ser357Leu
XM_017009971.2:c.1070C>T XP_016865460.1:p.Ser357Leu
XM_017009974.2:c.1070C>T XP_016865463.1:p.Ser357Leu