Canonical Allele Identifier: CA245751

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90720942T>C , CM000667.2:g.90720942T>C	GRCh38
NC_000005.9:g.90016759T>C , CM000667.1:g.90016759T>C	GRCh37
NC_000005.8:g.90052515T>C	NCBI36
NG_007083.1:g.167143T>C
NG_007083.2:g.196599T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9631T>C MANE Select	NP_115495.3:p.Ser3211Pro
ENST00000405460.9:c.9631T>C MANE Select	ENSP00000384582.2:p.Ser3211Pro
NM_032119.3:c.9631T>C	NP_115495.3:p.Ser3211Pro
NR_003149.1:n.9644T>C
NR_003149.2:n.9647T>C
ENST00000405460.6:c.9631T>C	ENSP00000384582.2:p.Ser3211Pro
ENST00000509621.1:c.2328T>C
ENST00000639431.1:c.265+44733T>C	ENSP00000491057.1:n.265+44733T>C
ENST00000640374.1:n.2775T>C
ENST00000640464.1:n.50T>C
ENST00000640779.1:c.4360T>C
XM_011543675.1:c.9628T>C	XP_011541977.1:p.Ser3210Pro
XM_011543676.1:c.9550T>C	XP_011541978.1:p.Ser3184Pro
XM_011543677.1:c.6934T>C	XP_011541979.1:p.Ser2312Pro
XM_011543678.1:c.9631T>C	XP_011541980.1:p.Ser3211Pro
XM_011543679.1:c.9631T>C	XP_011541981.1:p.Ser3211Pro
XM_017009963.2:c.9652T>C	XP_016865452.1:p.Ser3218Pro
XM_017009964.2:c.9649T>C	XP_016865453.1:p.Ser3217Pro
XM_017009965.1:c.9649T>C	XP_016865454.1:p.Ser3217Pro
XM_017009966.2:c.9571T>C	XP_016865455.1:p.Ser3191Pro
XM_017009967.1:c.9556T>C	XP_016865456.1:p.Ser3186Pro
XM_017009968.2:c.9652T>C	XP_016865457.1:p.Ser3218Pro
XM_017009969.2:c.9652T>C	XP_016865458.1:p.Ser3218Pro
XM_017009970.2:c.9652T>C	XP_016865459.1:p.Ser3218Pro
XM_017009971.2:c.9652T>C	XP_016865460.1:p.Ser3218Pro
XM_017009972.1:c.2770T>C	XP_016865461.1:p.Ser924Pro
XM_017009973.1:c.2749T>C	XP_016865462.1:p.Ser917Pro
XM_017009974.2:c.9652T>C	XP_016865463.1:p.Ser3218Pro
XR_001742802.1:n.2523-5133A>G
XR_948560.1:n.272-5133A>G