Canonical Allele Identifier: CA360399078

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90085642G>C (hg19) ; chr5:g.90789825G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90789825G>C , CM000667.2:g.90789825G>C	GRCh38
NC_000005.9:g.90085642G>C , CM000667.1:g.90085642G>C	GRCh37
NC_000005.8:g.90121398G>C	NCBI36
NG_007083.1:g.236026G>C
NG_007083.2:g.265482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.14017G>C MANE Select	ENSP00000384582.2:p.Val4673Leu
ENST00000425867.3:c.2971G>C	ENSP00000392618.3:p.Val991Leu
ENST00000638510.1:n.1284G>C
ENST00000638975.1:c.646G>C	ENSP00000492630.1:p.Val216Leu
ENST00000639431.1:c.265+113616G>C	ENSP00000491057.1:n.265+113616G>C
ENST00000640407.1:c.427G>C	ENSP00000491425.1:p.Val143Leu
ENST00000405460.6:c.14017G>C	ENSP00000384582.2:p.Val4673Leu
ENST00000425867.2:c.1000G>C	ENSP00000392618.2:p.Val334Leu
NM_032119.3:c.14017G>C	NP_115495.3:p.Val4673Leu
NR_003149.1:n.14030G>C
XM_011543675.1:c.14014G>C	XP_011541977.1:p.Val4672Leu
XM_011543676.1:c.13936G>C	XP_011541978.1:p.Val4646Leu
XM_011543677.1:c.11320G>C	XP_011541979.1:p.Val3774Leu
XM_011543678.1:c.14017G>C	XP_011541980.1:p.Val4673Leu
NM_032119.4:c.14017G>C MANE Select	NP_115495.3:p.Val4673Leu
XM_017009963.2:c.14038G>C	XP_016865452.1:p.Val4680Leu
XM_017009964.2:c.14035G>C	XP_016865453.1:p.Val4679Leu
XM_017009965.1:c.14035G>C	XP_016865454.1:p.Val4679Leu
XM_017009966.2:c.13957G>C	XP_016865455.1:p.Val4653Leu
XM_017009967.1:c.13942G>C	XP_016865456.1:p.Val4648Leu
XM_017009968.2:c.14038G>C	XP_016865457.1:p.Val4680Leu
XM_017009969.2:c.14038G>C	XP_016865458.1:p.Val4680Leu
XM_017009970.2:c.14038G>C	XP_016865459.1:p.Val4680Leu
XM_017009971.2:c.14038G>C	XP_016865460.1:p.Val4680Leu
XM_017009972.1:c.7156G>C	XP_016865461.1:p.Val2386Leu
XM_017009973.1:c.7135G>C	XP_016865462.1:p.Val2379Leu
NR_003149.2:n.14033G>C