Canonical Allele Identifier: CA445440380

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.91150113T>C , CM000667.2:g.91150113T>C	GRCh38
NC_000005.9:g.90445930T>C , CM000667.1:g.90445930T>C	GRCh37
NC_000005.8:g.90481686T>C	NCBI36
NG_007083.1:g.596314T>C
NG_007083.2:g.625770T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.18516T>C MANE Select	NP_115495.3:p.Asn6172=
ENST00000405460.9:c.18516T>C MANE Select	ENSP00000384582.2:p.Asn6172=
NM_032119.3:c.18516T>C	NP_115495.3:p.Asn6172=
NR_003149.1:n.18529T>C
NR_003149.2:n.18532T>C
ENST00000405460.6:c.18516T>C	ENSP00000384582.2:p.Asn6172=
ENST00000425867.2:c.5499T>C	ENSP00000392618.2:p.Asn1833=
ENST00000425867.3:c.7470T>C	ENSP00000392618.3:p.Asn2490=
ENST00000638510.1:n.5783T>C
ENST00000638990.1:c.1728T>C
ENST00000639212.1:n.436T>C
ENST00000639530.1:n.384T>C
ENST00000639821.1:c.517-13669T>C	ENSP00000492216.1:n.517-13669T>C
ENST00000640256.1:n.301-3108T>C
ENST00000640407.1:c.4965T>C	ENSP00000491425.1:n.4965T>C
ENST00000640815.1:c.600T>C	ENSP00000491767.1:p.Asn200=
XM_011543675.1:c.18513T>C	XP_011541977.1:p.Asn6171=
XM_011543676.1:c.18435T>C	XP_011541978.1:p.Asn6145=
XM_011543677.1:c.15819T>C	XP_011541979.1:p.Asn5273=
XM_017009963.2:c.18537T>C	XP_016865452.1:p.Asn6179=
XM_017009964.2:c.18534T>C	XP_016865453.1:p.Asn6178=
XM_017009965.1:c.18534T>C	XP_016865454.1:p.Asn6178=
XM_017009966.2:c.18456T>C	XP_016865455.1:p.Asn6152=
XM_017009967.1:c.18441T>C	XP_016865456.1:p.Asn6147=
XM_017009968.2:c.18357T>C	XP_016865457.1:p.Asn6119=
XM_017009969.2:c.18454-13669T>C	XP_016865458.1:n.18454-13669T>C
XM_017009972.1:c.11655T>C	XP_016865461.1:p.Asn3885=
XM_017009973.1:c.11634T>C	XP_016865462.1:p.Asn3878=
XR_001742796.1:n.225-14119A>G