Canonical Allele Identifier: CA360367127

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90050950T>C (hg19) ; chr5:g.90755133T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755133T>C , CM000667.2:g.90755133T>C	GRCh38
NC_000005.9:g.90050950T>C , CM000667.1:g.90050950T>C	GRCh37
NC_000005.8:g.90086706T>C	NCBI36
NG_007083.1:g.201334T>C
NG_007083.2:g.230790T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.11528T>C MANE Select	ENSP00000384582.2:p.Ile3843Thr
ENST00000425867.3:c.659T>C	ENSP00000392618.3:p.Ile220Thr
ENST00000639431.1:c.265+78924T>C	ENSP00000491057.1:n.265+78924T>C
ENST00000640374.1:n.4672T>C
ENST00000640464.1:n.1947T>C
ENST00000405460.6:c.11528T>C	ENSP00000384582.2:p.Ile3843Thr
ENST00000509621.1:c.4225T>C
NM_032119.3:c.11528T>C	NP_115495.3:p.Ile3843Thr
NR_003149.1:n.11541T>C
XM_011543675.1:c.11525T>C	XP_011541977.1:p.Ile3842Thr
XM_011543676.1:c.11447T>C	XP_011541978.1:p.Ile3816Thr
XM_011543677.1:c.8831T>C	XP_011541979.1:p.Ile2944Thr
XM_011543678.1:c.11528T>C	XP_011541980.1:p.Ile3843Thr
NM_032119.4:c.11528T>C MANE Select	NP_115495.3:p.Ile3843Thr
XM_017009963.2:c.11549T>C	XP_016865452.1:p.Ile3850Thr
XM_017009964.2:c.11546T>C	XP_016865453.1:p.Ile3849Thr
XM_017009965.1:c.11546T>C	XP_016865454.1:p.Ile3849Thr
XM_017009966.2:c.11468T>C	XP_016865455.1:p.Ile3823Thr
XM_017009967.1:c.11453T>C	XP_016865456.1:p.Ile3818Thr
XM_017009968.2:c.11549T>C	XP_016865457.1:p.Ile3850Thr
XM_017009969.2:c.11549T>C	XP_016865458.1:p.Ile3850Thr
XM_017009970.2:c.11549T>C	XP_016865459.1:p.Ile3850Thr
XM_017009971.2:c.11549T>C	XP_016865460.1:p.Ile3850Thr
XM_017009972.1:c.4667T>C	XP_016865461.1:p.Ile1556Thr
XM_017009973.1:c.4646T>C	XP_016865462.1:p.Ile1549Thr
NR_003149.2:n.11544T>C