Canonical Allele Identifier: CA360409722

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90745782-T-C
• MyVariant Identifiers: chr5:g.90041599T>C (hg19) ; chr5:g.90745782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745782T>C , CM000667.2:g.90745782T>C	GRCh38
NC_000005.9:g.90041599T>C , CM000667.1:g.90041599T>C	GRCh37
NC_000005.8:g.90077355T>C	NCBI36
NG_007083.1:g.191983T>C
NG_007083.2:g.221439T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10961T>C MANE Select	ENSP00000384582.2:p.Val3654Ala
ENST00000425867.3:c.92T>C	ENSP00000392618.3:p.Val31Ala
ENST00000639431.1:c.265+69573T>C	ENSP00000491057.1:n.265+69573T>C
ENST00000640374.1:n.4105T>C
ENST00000640464.1:n.1380T>C
ENST00000405460.6:c.10961T>C	ENSP00000384582.2:p.Val3654Ala
ENST00000509621.1:c.3658T>C
NM_032119.3:c.10961T>C	NP_115495.3:p.Val3654Ala
NR_003149.1:n.10974T>C
XM_011543675.1:c.10958T>C	XP_011541977.1:p.Val3653Ala
XM_011543676.1:c.10880T>C	XP_011541978.1:p.Val3627Ala
XM_011543677.1:c.8264T>C	XP_011541979.1:p.Val2755Ala
XM_011543678.1:c.10961T>C	XP_011541980.1:p.Val3654Ala
NM_032119.4:c.10961T>C MANE Select	NP_115495.3:p.Val3654Ala
XM_017009963.2:c.10982T>C	XP_016865452.1:p.Val3661Ala
XM_017009964.2:c.10979T>C	XP_016865453.1:p.Val3660Ala
XM_017009965.1:c.10979T>C	XP_016865454.1:p.Val3660Ala
XM_017009966.2:c.10901T>C	XP_016865455.1:p.Val3634Ala
XM_017009967.1:c.10886T>C	XP_016865456.1:p.Val3629Ala
XM_017009968.2:c.10982T>C	XP_016865457.1:p.Val3661Ala
XM_017009969.2:c.10982T>C	XP_016865458.1:p.Val3661Ala
XM_017009970.2:c.10982T>C	XP_016865459.1:p.Val3661Ala
XM_017009971.2:c.10982T>C	XP_016865460.1:p.Val3661Ala
XM_017009972.1:c.4100T>C	XP_016865461.1:p.Val1367Ala
XM_017009973.1:c.4079T>C	XP_016865462.1:p.Val1360Ala
NR_003149.2:n.10977T>C