Canonical Allele Identifier: CA360397421

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1750142435
• MyVariant Identifiers: chr5:g.90012431T>C (hg19) ; chr5:g.90716614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716614T>C , CM000667.2:g.90716614T>C	GRCh38
NC_000005.9:g.90012431T>C , CM000667.1:g.90012431T>C	GRCh37
NC_000005.8:g.90048187T>C	NCBI36
NG_007083.1:g.162815T>C
NG_007083.2:g.192271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9332T>C MANE Select	ENSP00000384582.2:p.Leu3111Ser
ENST00000639431.1:c.265+40405T>C	ENSP00000491057.1:n.265+40405T>C
ENST00000639473.1:n.4791T>C
ENST00000640012.1:c.3139T>C
ENST00000640374.1:n.2476T>C
ENST00000640779.1:c.4061T>C
ENST00000405460.6:c.9332T>C	ENSP00000384582.2:p.Leu3111Ser
ENST00000509621.1:c.2029T>C
NM_032119.3:c.9332T>C	NP_115495.3:p.Leu3111Ser
NR_003149.1:n.9345T>C
XM_011543675.1:c.9329T>C	XP_011541977.1:p.Leu3110Ser
XM_011543676.1:c.9251T>C	XP_011541978.1:p.Leu3084Ser
XM_011543677.1:c.6635T>C	XP_011541979.1:p.Leu2212Ser
XM_011543678.1:c.9332T>C	XP_011541980.1:p.Leu3111Ser
XM_011543679.1:c.9332T>C	XP_011541981.1:p.Leu3111Ser
XR_948560.1:n.272-805A>G
NM_032119.4:c.9332T>C MANE Select	NP_115495.3:p.Leu3111Ser
XM_017009963.2:c.9353T>C	XP_016865452.1:p.Leu3118Ser
XM_017009964.2:c.9350T>C	XP_016865453.1:p.Leu3117Ser
XM_017009965.1:c.9350T>C	XP_016865454.1:p.Leu3117Ser
XM_017009966.2:c.9272T>C	XP_016865455.1:p.Leu3091Ser
XM_017009967.1:c.9257T>C	XP_016865456.1:p.Leu3086Ser
XM_017009968.2:c.9353T>C	XP_016865457.1:p.Leu3118Ser
XM_017009969.2:c.9353T>C	XP_016865458.1:p.Leu3118Ser
XM_017009970.2:c.9353T>C	XP_016865459.1:p.Leu3118Ser
XM_017009971.2:c.9353T>C	XP_016865460.1:p.Leu3118Ser
XM_017009972.1:c.2471T>C	XP_016865461.1:p.Leu824Ser
XM_017009973.1:c.2450T>C	XP_016865462.1:p.Leu817Ser
XM_017009974.2:c.9353T>C	XP_016865463.1:p.Leu3118Ser
XR_001742802.1:n.2523-805A>G
NR_003149.2:n.9348T>C