Canonical Allele Identifier: CA360397449

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90716622-A-C
• MyVariant Identifiers: chr5:g.90012439A>C (hg19) ; chr5:g.90716622A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716622A>C , CM000667.2:g.90716622A>C	GRCh38
NC_000005.9:g.90012439A>C , CM000667.1:g.90012439A>C	GRCh37
NC_000005.8:g.90048195A>C	NCBI36
NG_007083.1:g.162823A>C
NG_007083.2:g.192279A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9340A>C MANE Select	ENSP00000384582.2:p.Thr3114Pro
ENST00000639431.1:c.265+40413A>C	ENSP00000491057.1:n.265+40413A>C
ENST00000639473.1:n.4799A>C
ENST00000640012.1:c.3147A>C
ENST00000640374.1:n.2484A>C
ENST00000640779.1:c.4069A>C
ENST00000405460.6:c.9340A>C	ENSP00000384582.2:p.Thr3114Pro
ENST00000509621.1:c.2037A>C
NM_032119.3:c.9340A>C	NP_115495.3:p.Thr3114Pro
NR_003149.1:n.9353A>C
XM_011543675.1:c.9337A>C	XP_011541977.1:p.Thr3113Pro
XM_011543676.1:c.9259A>C	XP_011541978.1:p.Thr3087Pro
XM_011543677.1:c.6643A>C	XP_011541979.1:p.Thr2215Pro
XM_011543678.1:c.9340A>C	XP_011541980.1:p.Thr3114Pro
XM_011543679.1:c.9340A>C	XP_011541981.1:p.Thr3114Pro
XR_948560.1:n.272-813T>G
NM_032119.4:c.9340A>C MANE Select	NP_115495.3:p.Thr3114Pro
XM_017009963.2:c.9361A>C	XP_016865452.1:p.Thr3121Pro
XM_017009964.2:c.9358A>C	XP_016865453.1:p.Thr3120Pro
XM_017009965.1:c.9358A>C	XP_016865454.1:p.Thr3120Pro
XM_017009966.2:c.9280A>C	XP_016865455.1:p.Thr3094Pro
XM_017009967.1:c.9265A>C	XP_016865456.1:p.Thr3089Pro
XM_017009968.2:c.9361A>C	XP_016865457.1:p.Thr3121Pro
XM_017009969.2:c.9361A>C	XP_016865458.1:p.Thr3121Pro
XM_017009970.2:c.9361A>C	XP_016865459.1:p.Thr3121Pro
XM_017009971.2:c.9361A>C	XP_016865460.1:p.Thr3121Pro
XM_017009972.1:c.2479A>C	XP_016865461.1:p.Thr827Pro
XM_017009973.1:c.2458A>C	XP_016865462.1:p.Thr820Pro
XM_017009974.2:c.9361A>C	XP_016865463.1:p.Thr3121Pro
XR_001742802.1:n.2523-813T>G
NR_003149.2:n.9356A>C