Canonical Allele Identifier: CA360401248

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90721061T>C , CM000667.2:g.90721061T>C	GRCh38
NC_000005.9:g.90016878T>C , CM000667.1:g.90016878T>C	GRCh37
NC_000005.8:g.90052634T>C	NCBI36
NG_007083.1:g.167262T>C
NG_007083.2:g.196718T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.9748+2T>C MANE Select	NP_115495.3:n.9748+2T>C
ENST00000405460.9:c.9748+2T>C MANE Select	ENSP00000384582.2:n.9748+2T>C
NM_032119.3:c.9748+2T>C	NP_115495.3:n.9748+2T>C
NR_003149.1:n.9761+2T>C
NR_003149.2:n.9764+2T>C
ENST00000405460.6:c.9748+2T>C	ENSP00000384582.2:n.9748+2T>C
ENST00000509621.1:c.2445+2T>C
ENST00000639431.1:c.265+44852T>C	ENSP00000491057.1:n.265+44852T>C
ENST00000640374.1:n.2892+2T>C
ENST00000640464.1:n.167+2T>C
ENST00000640779.1:c.4477+2T>C
XM_011543675.1:c.9745+2T>C	XP_011541977.1:n.9745+2T>C
XM_011543676.1:c.9667+2T>C	XP_011541978.1:n.9667+2T>C
XM_011543677.1:c.7051+2T>C	XP_011541979.1:n.7051+2T>C
XM_011543678.1:c.9748+2T>C	XP_011541980.1:n.9748+2T>C
XM_011543679.1:c.9748+2T>C	XP_011541981.1:n.9748+2T>C
XM_017009963.2:c.9769+2T>C	XP_016865452.1:n.9769+2T>C
XM_017009964.2:c.9766+2T>C	XP_016865453.1:n.9766+2T>C
XM_017009965.1:c.9766+2T>C	XP_016865454.1:n.9766+2T>C
XM_017009966.2:c.9688+2T>C	XP_016865455.1:n.9688+2T>C
XM_017009967.1:c.9673+2T>C	XP_016865456.1:n.9673+2T>C
XM_017009968.2:c.9769+2T>C	XP_016865457.1:n.9769+2T>C
XM_017009969.2:c.9769+2T>C	XP_016865458.1:n.9769+2T>C
XM_017009970.2:c.9769+2T>C	XP_016865459.1:n.9769+2T>C
XM_017009971.2:c.9769+2T>C	XP_016865460.1:n.9769+2T>C
XM_017009972.1:c.2887+2T>C	XP_016865461.1:n.2887+2T>C
XM_017009973.1:c.2866+2T>C	XP_016865462.1:n.2866+2T>C
XM_017009974.2:c.9769+2T>C	XP_016865463.1:n.9769+2T>C
XR_001742802.1:n.2523-5252A>G
XR_948560.1:n.272-5252A>G