Canonical Allele Identifier: CA360397638

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90716674-A-C
• MyVariant Identifiers: chr5:g.90012491A>C (hg19) ; chr5:g.90716674A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716674A>C , CM000667.2:g.90716674A>C	GRCh38
NC_000005.9:g.90012491A>C , CM000667.1:g.90012491A>C	GRCh37
NC_000005.8:g.90048247A>C	NCBI36
NG_007083.1:g.162875A>C
NG_007083.2:g.192331A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.9392A>C MANE Select	ENSP00000384582.2:p.Lys3131Thr
ENST00000639431.1:c.265+40465A>C	ENSP00000491057.1:n.265+40465A>C
ENST00000639473.1:n.4851A>C
ENST00000640012.1:c.3199A>C
ENST00000640374.1:n.2536A>C
ENST00000640779.1:c.4121A>C
ENST00000405460.6:c.9392A>C	ENSP00000384582.2:p.Lys3131Thr
ENST00000509621.1:c.2089A>C
NM_032119.3:c.9392A>C	NP_115495.3:p.Lys3131Thr
NR_003149.1:n.9405A>C
XM_011543675.1:c.9389A>C	XP_011541977.1:p.Lys3130Thr
XM_011543676.1:c.9311A>C	XP_011541978.1:p.Lys3104Thr
XM_011543677.1:c.6695A>C	XP_011541979.1:p.Lys2232Thr
XM_011543678.1:c.9392A>C	XP_011541980.1:p.Lys3131Thr
XM_011543679.1:c.9392A>C	XP_011541981.1:p.Lys3131Thr
XR_948560.1:n.272-865T>G
NM_032119.4:c.9392A>C MANE Select	NP_115495.3:p.Lys3131Thr
XM_017009963.2:c.9413A>C	XP_016865452.1:p.Lys3138Thr
XM_017009964.2:c.9410A>C	XP_016865453.1:p.Lys3137Thr
XM_017009965.1:c.9410A>C	XP_016865454.1:p.Lys3137Thr
XM_017009966.2:c.9332A>C	XP_016865455.1:p.Lys3111Thr
XM_017009967.1:c.9317A>C	XP_016865456.1:p.Lys3106Thr
XM_017009968.2:c.9413A>C	XP_016865457.1:p.Lys3138Thr
XM_017009969.2:c.9413A>C	XP_016865458.1:p.Lys3138Thr
XM_017009970.2:c.9413A>C	XP_016865459.1:p.Lys3138Thr
XM_017009971.2:c.9413A>C	XP_016865460.1:p.Lys3138Thr
XM_017009972.1:c.2531A>C	XP_016865461.1:p.Lys844Thr
XM_017009973.1:c.2510A>C	XP_016865462.1:p.Lys837Thr
XM_017009974.2:c.9413A>C	XP_016865463.1:p.Lys3138Thr
XR_001742802.1:n.2523-865T>G
NR_003149.2:n.9408A>C