Canonical Allele Identifier: CA360397558

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90012469G>C (hg19) ; chr5:g.90716652G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716652G>C , CM000667.2:g.90716652G>C	GRCh38
NC_000005.9:g.90012469G>C , CM000667.1:g.90012469G>C	GRCh37
NC_000005.8:g.90048225G>C	NCBI36
NG_007083.1:g.162853G>C
NG_007083.2:g.192309G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.9370G>C MANE Select	ENSP00000384582.2:p.Val3124Leu
ENST00000639431.1:c.265+40443G>C	ENSP00000491057.1:n.265+40443G>C
ENST00000639473.1:n.4829G>C
ENST00000640012.1:c.3177G>C
ENST00000640374.1:n.2514G>C
ENST00000640779.1:c.4099G>C
ENST00000405460.6:c.9370G>C	ENSP00000384582.2:p.Val3124Leu
ENST00000509621.1:c.2067G>C
NM_032119.3:c.9370G>C	NP_115495.3:p.Val3124Leu
NR_003149.1:n.9383G>C
XM_011543675.1:c.9367G>C	XP_011541977.1:p.Val3123Leu
XM_011543676.1:c.9289G>C	XP_011541978.1:p.Val3097Leu
XM_011543677.1:c.6673G>C	XP_011541979.1:p.Val2225Leu
XM_011543678.1:c.9370G>C	XP_011541980.1:p.Val3124Leu
XM_011543679.1:c.9370G>C	XP_011541981.1:p.Val3124Leu
XR_948560.1:n.272-843C>G
NM_032119.4:c.9370G>C MANE Select	NP_115495.3:p.Val3124Leu
XM_017009963.2:c.9391G>C	XP_016865452.1:p.Val3131Leu
XM_017009964.2:c.9388G>C	XP_016865453.1:p.Val3130Leu
XM_017009965.1:c.9388G>C	XP_016865454.1:p.Val3130Leu
XM_017009966.2:c.9310G>C	XP_016865455.1:p.Val3104Leu
XM_017009967.1:c.9295G>C	XP_016865456.1:p.Val3099Leu
XM_017009968.2:c.9391G>C	XP_016865457.1:p.Val3131Leu
XM_017009969.2:c.9391G>C	XP_016865458.1:p.Val3131Leu
XM_017009970.2:c.9391G>C	XP_016865459.1:p.Val3131Leu
XM_017009971.2:c.9391G>C	XP_016865460.1:p.Val3131Leu
XM_017009972.1:c.2509G>C	XP_016865461.1:p.Val837Leu
XM_017009973.1:c.2488G>C	XP_016865462.1:p.Val830Leu
XM_017009974.2:c.9391G>C	XP_016865463.1:p.Val3131Leu
XR_001742802.1:n.2523-843C>G
NR_003149.2:n.9386G>C