Canonical Allele Identifier: CA3342387

Gene: ADGRV1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90854125T>C , CM000667.2:g.90854125T>C	GRCh38
NC_000005.9:g.90149942T>C , CM000667.1:g.90149942T>C	GRCh37
NC_000005.8:g.90185698T>C	NCBI36
NG_007083.1:g.300326T>C
NG_007083.2:g.329782T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032119.4:c.17518T>C MANE Select	NP_115495.3:p.Tyr5840His
ENST00000405460.9:c.17518T>C MANE Select	ENSP00000384582.2:p.Tyr5840His
NM_032119.3:c.17518T>C	NP_115495.3:p.Tyr5840His
NR_003149.1:n.17531T>C
NR_003149.2:n.17534T>C
ENST00000405460.6:c.17518T>C	ENSP00000384582.2:p.Tyr5840His
ENST00000425867.2:c.4501T>C	ENSP00000392618.2:p.Tyr1501His
ENST00000425867.3:c.6472T>C	ENSP00000392618.3:p.Tyr2158His
ENST00000503852.1:n.66T>C
ENST00000638510.1:n.4785T>C
ENST00000638990.1:c.730T>C
ENST00000639431.1:c.266-131219T>C	ENSP00000491057.1:n.266-131219T>C
ENST00000640407.1:c.3967T>C	ENSP00000491425.1:n.3967T>C
XM_011543675.1:c.17515T>C	XP_011541977.1:p.Tyr5839His
XM_011543676.1:c.17437T>C	XP_011541978.1:p.Tyr5813His
XM_011543677.1:c.14821T>C	XP_011541979.1:p.Tyr4941His
XM_017009963.2:c.17539T>C	XP_016865452.1:p.Tyr5847His
XM_017009964.2:c.17536T>C	XP_016865453.1:p.Tyr5846His
XM_017009965.1:c.17536T>C	XP_016865454.1:p.Tyr5846His
XM_017009966.2:c.17458T>C	XP_016865455.1:p.Tyr5820His
XM_017009967.1:c.17443T>C	XP_016865456.1:p.Tyr5815His
XM_017009968.2:c.17359T>C	XP_016865457.1:p.Tyr5787His
XM_017009969.2:c.17539T>C	XP_016865458.1:p.Tyr5847His
XM_017009972.1:c.10657T>C	XP_016865461.1:p.Tyr3553His
XM_017009973.1:c.10636T>C	XP_016865462.1:p.Tyr3546His