Canonical Allele Identifier: CA360397666

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90012499A>C (hg19) ; chr5:g.90716682A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716682A>C , CM000667.2:g.90716682A>C	GRCh38
NC_000005.9:g.90012499A>C , CM000667.1:g.90012499A>C	GRCh37
NC_000005.8:g.90048255A>C	NCBI36
NG_007083.1:g.162883A>C
NG_007083.2:g.192339A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.9400A>C MANE Select	ENSP00000384582.2:p.Thr3134Pro
ENST00000639431.1:c.265+40473A>C	ENSP00000491057.1:n.265+40473A>C
ENST00000639473.1:n.4859A>C
ENST00000640012.1:c.3207A>C
ENST00000640374.1:n.2544A>C
ENST00000640779.1:c.4129A>C
ENST00000405460.6:c.9400A>C	ENSP00000384582.2:p.Thr3134Pro
ENST00000509621.1:c.2097A>C
NM_032119.3:c.9400A>C	NP_115495.3:p.Thr3134Pro
NR_003149.1:n.9413A>C
XM_011543675.1:c.9397A>C	XP_011541977.1:p.Thr3133Pro
XM_011543676.1:c.9319A>C	XP_011541978.1:p.Thr3107Pro
XM_011543677.1:c.6703A>C	XP_011541979.1:p.Thr2235Pro
XM_011543678.1:c.9400A>C	XP_011541980.1:p.Thr3134Pro
XM_011543679.1:c.9400A>C	XP_011541981.1:p.Thr3134Pro
XR_948560.1:n.272-873T>G
NM_032119.4:c.9400A>C MANE Select	NP_115495.3:p.Thr3134Pro
XM_017009963.2:c.9421A>C	XP_016865452.1:p.Thr3141Pro
XM_017009964.2:c.9418A>C	XP_016865453.1:p.Thr3140Pro
XM_017009965.1:c.9418A>C	XP_016865454.1:p.Thr3140Pro
XM_017009966.2:c.9340A>C	XP_016865455.1:p.Thr3114Pro
XM_017009967.1:c.9325A>C	XP_016865456.1:p.Thr3109Pro
XM_017009968.2:c.9421A>C	XP_016865457.1:p.Thr3141Pro
XM_017009969.2:c.9421A>C	XP_016865458.1:p.Thr3141Pro
XM_017009970.2:c.9421A>C	XP_016865459.1:p.Thr3141Pro
XM_017009971.2:c.9421A>C	XP_016865460.1:p.Thr3141Pro
XM_017009972.1:c.2539A>C	XP_016865461.1:p.Thr847Pro
XM_017009973.1:c.2518A>C	XP_016865462.1:p.Thr840Pro
XM_017009974.2:c.9421A>C	XP_016865463.1:p.Thr3141Pro
XR_001742802.1:n.2523-873T>G
NR_003149.2:n.9416A>C