Canonical Allele Identifier: CA3342692

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.91150198A>C , CM000667.2:g.91150198A>C	GRCh38
NC_000005.9:g.90446015A>C , CM000667.1:g.90446015A>C	GRCh37
NC_000005.8:g.90481771A>C	NCBI36
NG_007083.1:g.596399A>C
NG_007083.2:g.625855A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.18601A>C MANE Select	NP_115495.3:p.Asn6201His
ENST00000405460.9:c.18601A>C MANE Select	ENSP00000384582.2:p.Asn6201His
NM_032119.3:c.18601A>C	NP_115495.3:p.Asn6201His
NR_003149.1:n.18614A>C
NR_003149.2:n.18617A>C
ENST00000405460.6:c.18601A>C	ENSP00000384582.2:p.Asn6201His
ENST00000425867.2:c.5584A>C	ENSP00000392618.2:p.Asn1862His
ENST00000425867.3:c.7555A>C	ENSP00000392618.3:p.Asn2519His
ENST00000638510.1:n.5868A>C
ENST00000638990.1:c.1813A>C
ENST00000639212.1:n.521A>C
ENST00000639530.1:n.469A>C
ENST00000639821.1:c.517-13584A>C	ENSP00000492216.1:n.517-13584A>C
ENST00000640256.1:n.301-3023A>C
ENST00000640407.1:c.5050A>C	ENSP00000491425.1:n.5050A>C
ENST00000640815.1:c.685A>C	ENSP00000491767.1:p.Asn229His
XM_011543675.1:c.18598A>C	XP_011541977.1:p.Asn6200His
XM_011543676.1:c.18520A>C	XP_011541978.1:p.Asn6174His
XM_011543677.1:c.15904A>C	XP_011541979.1:p.Asn5302His
XM_017009963.2:c.18622A>C	XP_016865452.1:p.Asn6208His
XM_017009964.2:c.18619A>C	XP_016865453.1:p.Asn6207His
XM_017009965.1:c.18619A>C	XP_016865454.1:p.Asn6207His
XM_017009966.2:c.18541A>C	XP_016865455.1:p.Asn6181His
XM_017009967.1:c.18526A>C	XP_016865456.1:p.Asn6176His
XM_017009968.2:c.18442A>C	XP_016865457.1:p.Asn6148His
XM_017009969.2:c.18454-13584A>C	XP_016865458.1:n.18454-13584A>C
XM_017009972.1:c.11740A>C	XP_016865461.1:p.Asn3914His
XM_017009973.1:c.11719A>C	XP_016865462.1:p.Asn3907His
XR_001742796.1:n.225-14204T>G