Canonical Allele Identifier: CA360397645

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90012492A>C (hg19) ; chr5:g.90716675A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90716675A>C , CM000667.2:g.90716675A>C	GRCh38
NC_000005.9:g.90012492A>C , CM000667.1:g.90012492A>C	GRCh37
NC_000005.8:g.90048248A>C	NCBI36
NG_007083.1:g.162876A>C
NG_007083.2:g.192332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.9393A>C MANE Select	ENSP00000384582.2:p.Lys3131Asn
ENST00000639431.1:c.265+40466A>C	ENSP00000491057.1:n.265+40466A>C
ENST00000639473.1:n.4852A>C
ENST00000640012.1:c.3200A>C
ENST00000640374.1:n.2537A>C
ENST00000640779.1:c.4122A>C
ENST00000405460.6:c.9393A>C	ENSP00000384582.2:p.Lys3131Asn
ENST00000509621.1:c.2090A>C
NM_032119.3:c.9393A>C	NP_115495.3:p.Lys3131Asn
NR_003149.1:n.9406A>C
XM_011543675.1:c.9390A>C	XP_011541977.1:p.Lys3130Asn
XM_011543676.1:c.9312A>C	XP_011541978.1:p.Lys3104Asn
XM_011543677.1:c.6696A>C	XP_011541979.1:p.Lys2232Asn
XM_011543678.1:c.9393A>C	XP_011541980.1:p.Lys3131Asn
XM_011543679.1:c.9393A>C	XP_011541981.1:p.Lys3131Asn
XR_948560.1:n.272-866T>G
NM_032119.4:c.9393A>C MANE Select	NP_115495.3:p.Lys3131Asn
XM_017009963.2:c.9414A>C	XP_016865452.1:p.Lys3138Asn
XM_017009964.2:c.9411A>C	XP_016865453.1:p.Lys3137Asn
XM_017009965.1:c.9411A>C	XP_016865454.1:p.Lys3137Asn
XM_017009966.2:c.9333A>C	XP_016865455.1:p.Lys3111Asn
XM_017009967.1:c.9318A>C	XP_016865456.1:p.Lys3106Asn
XM_017009968.2:c.9414A>C	XP_016865457.1:p.Lys3138Asn
XM_017009969.2:c.9414A>C	XP_016865458.1:p.Lys3138Asn
XM_017009970.2:c.9414A>C	XP_016865459.1:p.Lys3138Asn
XM_017009971.2:c.9414A>C	XP_016865460.1:p.Lys3138Asn
XM_017009972.1:c.2532A>C	XP_016865461.1:p.Lys844Asn
XM_017009973.1:c.2511A>C	XP_016865462.1:p.Lys837Asn
XM_017009974.2:c.9414A>C	XP_016865463.1:p.Lys3138Asn
XR_001742802.1:n.2523-866T>G
NR_003149.2:n.9409A>C