Canonical Allele Identifier: CA360399135

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90085655T>C (hg19) ; chr5:g.90789838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90789838T>C , CM000667.2:g.90789838T>C	GRCh38
NC_000005.9:g.90085655T>C , CM000667.1:g.90085655T>C	GRCh37
NC_000005.8:g.90121411T>C	NCBI36
NG_007083.1:g.236039T>C
NG_007083.2:g.265495T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.14030T>C MANE Select	ENSP00000384582.2:p.Phe4677Ser
ENST00000425867.3:c.2984T>C	ENSP00000392618.3:p.Phe995Ser
ENST00000638510.1:n.1297T>C
ENST00000638975.1:c.659T>C	ENSP00000492630.1:p.Phe220Ser
ENST00000639431.1:c.265+113629T>C	ENSP00000491057.1:n.265+113629T>C
ENST00000640407.1:c.440T>C	ENSP00000491425.1:p.Phe147Ser
ENST00000405460.6:c.14030T>C	ENSP00000384582.2:p.Phe4677Ser
ENST00000425867.2:c.1013T>C	ENSP00000392618.2:p.Phe338Ser
NM_032119.3:c.14030T>C	NP_115495.3:p.Phe4677Ser
NR_003149.1:n.14043T>C
XM_011543675.1:c.14027T>C	XP_011541977.1:p.Phe4676Ser
XM_011543676.1:c.13949T>C	XP_011541978.1:p.Phe4650Ser
XM_011543677.1:c.11333T>C	XP_011541979.1:p.Phe3778Ser
XM_011543678.1:c.14030T>C	XP_011541980.1:p.Phe4677Ser
NM_032119.4:c.14030T>C MANE Select	NP_115495.3:p.Phe4677Ser
XM_017009963.2:c.14051T>C	XP_016865452.1:p.Phe4684Ser
XM_017009964.2:c.14048T>C	XP_016865453.1:p.Phe4683Ser
XM_017009965.1:c.14048T>C	XP_016865454.1:p.Phe4683Ser
XM_017009966.2:c.13970T>C	XP_016865455.1:p.Phe4657Ser
XM_017009967.1:c.13955T>C	XP_016865456.1:p.Phe4652Ser
XM_017009968.2:c.14051T>C	XP_016865457.1:p.Phe4684Ser
XM_017009969.2:c.14051T>C	XP_016865458.1:p.Phe4684Ser
XM_017009970.2:c.14051T>C	XP_016865459.1:p.Phe4684Ser
XM_017009971.2:c.14051T>C	XP_016865460.1:p.Phe4684Ser
XM_017009972.1:c.7169T>C	XP_016865461.1:p.Phe2390Ser
XM_017009973.1:c.7148T>C	XP_016865462.1:p.Phe2383Ser
NR_003149.2:n.14046T>C