Canonical Allele Identifier: CA3339420

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90672644T>C , CM000667.2:g.90672644T>C	GRCh38
NC_000005.9:g.89968461T>C , CM000667.1:g.89968461T>C	GRCh37
NC_000005.8:g.90004217T>C	NCBI36
NG_007083.1:g.118845T>C
NG_007083.2:g.148301T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.4851T>C MANE Select	NP_115495.3:p.Thr1617=
ENST00000405460.9:c.4851T>C MANE Select	ENSP00000384582.2:p.Thr1617=
NM_032119.3:c.4851T>C	NP_115495.3:p.Thr1617=
NR_003149.1:n.4947T>C
NR_003149.2:n.4950T>C
ENST00000405460.6:c.4851T>C	ENSP00000384582.2:p.Thr1617=
ENST00000450321.2:n.91T>C
ENST00000639473.1:n.310T>C
ENST00000639676.1:n.2449T>C
ENST00000640403.1:c.2142T>C	ENSP00000492531.1:p.Thr714=
XM_011543675.1:c.4851T>C	XP_011541977.1:p.Thr1617=
XM_011543676.1:c.4851T>C	XP_011541978.1:p.Thr1617=
XM_011543677.1:c.2154T>C	XP_011541979.1:p.Thr718=
XM_011543678.1:c.4851T>C	XP_011541980.1:p.Thr1617=
XM_011543679.1:c.4851T>C	XP_011541981.1:p.Thr1617=
XM_017009963.2:c.4851T>C	XP_016865452.1:p.Thr1617=
XM_017009964.2:c.4851T>C	XP_016865453.1:p.Thr1617=
XM_017009965.1:c.4848T>C	XP_016865454.1:p.Thr1616=
XM_017009966.2:c.4851T>C	XP_016865455.1:p.Thr1617=
XM_017009967.1:c.4755T>C	XP_016865456.1:p.Thr1585=
XM_017009968.2:c.4851T>C	XP_016865457.1:p.Thr1617=
XM_017009969.2:c.4851T>C	XP_016865458.1:p.Thr1617=
XM_017009970.2:c.4851T>C	XP_016865459.1:p.Thr1617=
XM_017009971.2:c.4851T>C	XP_016865460.1:p.Thr1617=
XM_017009974.2:c.4851T>C	XP_016865463.1:p.Thr1617=