Canonical Allele Identifier: CA360408999

Gene: ADGRV1

Linked Data

• MyVariant Identifiers: chr5:g.90041464T>C (hg19) ; chr5:g.90745647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90745647T>C , CM000667.2:g.90745647T>C	GRCh38
NC_000005.9:g.90041464T>C , CM000667.1:g.90041464T>C	GRCh37
NC_000005.8:g.90077220T>C	NCBI36
NG_007083.1:g.191848T>C
NG_007083.2:g.221304T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.10826T>C MANE Select	ENSP00000384582.2:p.Ile3609Thr
ENST00000639431.1:c.265+69438T>C	ENSP00000491057.1:n.265+69438T>C
ENST00000640374.1:n.3970T>C
ENST00000640464.1:n.1245T>C
ENST00000405460.6:c.10826T>C	ENSP00000384582.2:p.Ile3609Thr
ENST00000509621.1:c.3523T>C
NM_032119.3:c.10826T>C	NP_115495.3:p.Ile3609Thr
NR_003149.1:n.10839T>C
XM_011543675.1:c.10823T>C	XP_011541977.1:p.Ile3608Thr
XM_011543676.1:c.10745T>C	XP_011541978.1:p.Ile3582Thr
XM_011543677.1:c.8129T>C	XP_011541979.1:p.Ile2710Thr
XM_011543678.1:c.10826T>C	XP_011541980.1:p.Ile3609Thr
XM_011543679.1:c.*48T>C	XP_011541981.1:n.*48T>C
NM_032119.4:c.10826T>C MANE Select	NP_115495.3:p.Ile3609Thr
XM_017009963.2:c.10847T>C	XP_016865452.1:p.Ile3616Thr
XM_017009964.2:c.10844T>C	XP_016865453.1:p.Ile3615Thr
XM_017009965.1:c.10844T>C	XP_016865454.1:p.Ile3615Thr
XM_017009966.2:c.10766T>C	XP_016865455.1:p.Ile3589Thr
XM_017009967.1:c.10751T>C	XP_016865456.1:p.Ile3584Thr
XM_017009968.2:c.10847T>C	XP_016865457.1:p.Ile3616Thr
XM_017009969.2:c.10847T>C	XP_016865458.1:p.Ile3616Thr
XM_017009970.2:c.10847T>C	XP_016865459.1:p.Ile3616Thr
XM_017009971.2:c.10847T>C	XP_016865460.1:p.Ile3616Thr
XM_017009972.1:c.3965T>C	XP_016865461.1:p.Ile1322Thr
XM_017009973.1:c.3944T>C	XP_016865462.1:p.Ile1315Thr
XM_017009974.2:c.*48T>C	XP_016865463.1:n.*48T>C
NR_003149.2:n.10842T>C