Canonical Allele Identifier: CA360425586

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90119315G>T (hg19) ; chr5:g.90823498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823498G>T , CM000667.2:g.90823498G>T	GRCh38
NC_000005.9:g.90119315G>T , CM000667.1:g.90119315G>T	GRCh37
NC_000005.8:g.90155071G>T	NCBI36
NG_007083.1:g.269699G>T
NG_007083.2:g.299155G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16270G>T MANE Select	ENSP00000384582.2:p.Val5424Leu
ENST00000425867.3:c.5224G>T	ENSP00000392618.3:p.Val1742Leu
ENST00000638510.1:n.3537G>T
ENST00000639431.1:c.265+147289G>T	ENSP00000491057.1:n.265+147289G>T
ENST00000640061.1:n.128+1316G>T
ENST00000640407.1:c.2680G>T	ENSP00000491425.1:p.Val894Leu
ENST00000405460.6:c.16270G>T	ENSP00000384582.2:p.Val5424Leu
ENST00000425867.2:c.3253G>T	ENSP00000392618.2:p.Val1085Leu
NM_032119.3:c.16270G>T	NP_115495.3:p.Val5424Leu
NR_003149.1:n.16283G>T
XM_011543675.1:c.16267G>T	XP_011541977.1:p.Val5423Leu
XM_011543676.1:c.16189G>T	XP_011541978.1:p.Val5397Leu
XM_011543677.1:c.13573G>T	XP_011541979.1:p.Val4525Leu
NM_032119.4:c.16270G>T MANE Select	NP_115495.3:p.Val5424Leu
XM_017009963.2:c.16291G>T	XP_016865452.1:p.Val5431Leu
XM_017009964.2:c.16288G>T	XP_016865453.1:p.Val5430Leu
XM_017009965.1:c.16288G>T	XP_016865454.1:p.Val5430Leu
XM_017009966.2:c.16210G>T	XP_016865455.1:p.Val5404Leu
XM_017009967.1:c.16195G>T	XP_016865456.1:p.Val5399Leu
XM_017009968.2:c.16111G>T	XP_016865457.1:p.Val5371Leu
XM_017009969.2:c.16291G>T	XP_016865458.1:p.Val5431Leu
XM_017009972.1:c.9409G>T	XP_016865461.1:p.Val3137Leu
XM_017009973.1:c.9388G>T	XP_016865462.1:p.Val3130Leu
NR_003149.2:n.16286G>T