Canonical Allele Identifier: CA360367117

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90755130-T-C
• MyVariant Identifiers: chr5:g.90050947T>C (hg19) ; chr5:g.90755130T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755130T>C , CM000667.2:g.90755130T>C	GRCh38
NC_000005.9:g.90050947T>C , CM000667.1:g.90050947T>C	GRCh37
NC_000005.8:g.90086703T>C	NCBI36
NG_007083.1:g.201331T>C
NG_007083.2:g.230787T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11525T>C MANE Select	ENSP00000384582.2:p.Ile3842Thr
ENST00000425867.3:c.656T>C	ENSP00000392618.3:p.Ile219Thr
ENST00000639431.1:c.265+78921T>C	ENSP00000491057.1:n.265+78921T>C
ENST00000640374.1:n.4669T>C
ENST00000640464.1:n.1944T>C
ENST00000405460.6:c.11525T>C	ENSP00000384582.2:p.Ile3842Thr
ENST00000509621.1:c.4222T>C
NM_032119.3:c.11525T>C	NP_115495.3:p.Ile3842Thr
NR_003149.1:n.11538T>C
XM_011543675.1:c.11522T>C	XP_011541977.1:p.Ile3841Thr
XM_011543676.1:c.11444T>C	XP_011541978.1:p.Ile3815Thr
XM_011543677.1:c.8828T>C	XP_011541979.1:p.Ile2943Thr
XM_011543678.1:c.11525T>C	XP_011541980.1:p.Ile3842Thr
NM_032119.4:c.11525T>C MANE Select	NP_115495.3:p.Ile3842Thr
XM_017009963.2:c.11546T>C	XP_016865452.1:p.Ile3849Thr
XM_017009964.2:c.11543T>C	XP_016865453.1:p.Ile3848Thr
XM_017009965.1:c.11543T>C	XP_016865454.1:p.Ile3848Thr
XM_017009966.2:c.11465T>C	XP_016865455.1:p.Ile3822Thr
XM_017009967.1:c.11450T>C	XP_016865456.1:p.Ile3817Thr
XM_017009968.2:c.11546T>C	XP_016865457.1:p.Ile3849Thr
XM_017009969.2:c.11546T>C	XP_016865458.1:p.Ile3849Thr
XM_017009970.2:c.11546T>C	XP_016865459.1:p.Ile3849Thr
XM_017009971.2:c.11546T>C	XP_016865460.1:p.Ile3849Thr
XM_017009972.1:c.4664T>C	XP_016865461.1:p.Ile1555Thr
XM_017009973.1:c.4643T>C	XP_016865462.1:p.Ile1548Thr
NR_003149.2:n.11541T>C