Canonical Allele Identifier: CA360425545

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90119295T>C (hg19) ; chr5:g.90823478T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90823478T>C , CM000667.2:g.90823478T>C	GRCh38
NC_000005.9:g.90119295T>C , CM000667.1:g.90119295T>C	GRCh37
NC_000005.8:g.90155051T>C	NCBI36
NG_007083.1:g.269679T>C
NG_007083.2:g.299135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.16250T>C MANE Select	ENSP00000384582.2:p.Val5417Ala
ENST00000425867.3:c.5204T>C	ENSP00000392618.3:p.Val1735Ala
ENST00000638510.1:n.3517T>C
ENST00000639431.1:c.265+147269T>C	ENSP00000491057.1:n.265+147269T>C
ENST00000640061.1:n.128+1296T>C
ENST00000640407.1:c.2660T>C	ENSP00000491425.1:p.Val887Ala
ENST00000405460.6:c.16250T>C	ENSP00000384582.2:p.Val5417Ala
ENST00000425867.2:c.3233T>C	ENSP00000392618.2:p.Val1078Ala
NM_032119.3:c.16250T>C	NP_115495.3:p.Val5417Ala
NR_003149.1:n.16263T>C
XM_011543675.1:c.16247T>C	XP_011541977.1:p.Val5416Ala
XM_011543676.1:c.16169T>C	XP_011541978.1:p.Val5390Ala
XM_011543677.1:c.13553T>C	XP_011541979.1:p.Val4518Ala
NM_032119.4:c.16250T>C MANE Select	NP_115495.3:p.Val5417Ala
XM_017009963.2:c.16271T>C	XP_016865452.1:p.Val5424Ala
XM_017009964.2:c.16268T>C	XP_016865453.1:p.Val5423Ala
XM_017009965.1:c.16268T>C	XP_016865454.1:p.Val5423Ala
XM_017009966.2:c.16190T>C	XP_016865455.1:p.Val5397Ala
XM_017009967.1:c.16175T>C	XP_016865456.1:p.Val5392Ala
XM_017009968.2:c.16091T>C	XP_016865457.1:p.Val5364Ala
XM_017009969.2:c.16271T>C	XP_016865458.1:p.Val5424Ala
XM_017009972.1:c.9389T>C	XP_016865461.1:p.Val3130Ala
XM_017009973.1:c.9368T>C	XP_016865462.1:p.Val3123Ala
NR_003149.2:n.16266T>C