Canonical Allele Identifier: CA445404484

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90692646-T-C
• MyVariant Identifiers: chr5:g.89988463T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692646T>C , CM000667.2:g.90692646T>C	GRCh38
NC_000005.9:g.89988463T>C , CM000667.1:g.89988463T>C	GRCh37
NC_000005.8:g.90024219T>C	NCBI36
NG_007083.1:g.138847T>C
NG_007083.2:g.168303T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.6993T>C MANE Select	ENSP00000384582.2:p.Thr2331=
ENST00000639431.1:c.265+16437T>C	ENSP00000491057.1:n.265+16437T>C
ENST00000639473.1:n.2452T>C
ENST00000640012.1:c.800T>C
ENST00000640374.1:n.137T>C
ENST00000640403.1:c.4284T>C	ENSP00000492531.1:p.Thr1428=
ENST00000640779.1:c.1722T>C
ENST00000405460.6:c.6993T>C	ENSP00000384582.2:p.Thr2331=
NM_032119.3:c.6993T>C	NP_115495.3:p.Thr2331=
NR_003149.1:n.7006T>C
XM_011543675.1:c.6990T>C	XP_011541977.1:p.Thr2330=
XM_011543676.1:c.6912T>C	XP_011541978.1:p.Thr2304=
XM_011543677.1:c.4296T>C	XP_011541979.1:p.Thr1432=
XM_011543678.1:c.6993T>C	XP_011541980.1:p.Thr2331=
XM_011543679.1:c.6993T>C	XP_011541981.1:p.Thr2331=
NM_032119.4:c.6993T>C MANE Select	NP_115495.3:p.Thr2331=
XM_017009963.2:c.6993T>C	XP_016865452.1:p.Thr2331=
XM_017009964.2:c.6990T>C	XP_016865453.1:p.Thr2330=
XM_017009965.1:c.6990T>C	XP_016865454.1:p.Thr2330=
XM_017009966.2:c.6912T>C	XP_016865455.1:p.Thr2304=
XM_017009967.1:c.6897T>C	XP_016865456.1:p.Thr2299=
XM_017009968.2:c.6993T>C	XP_016865457.1:p.Thr2331=
XM_017009969.2:c.6993T>C	XP_016865458.1:p.Thr2331=
XM_017009970.2:c.6993T>C	XP_016865459.1:p.Thr2331=
XM_017009971.2:c.6993T>C	XP_016865460.1:p.Thr2331=
XM_017009972.1:c.111T>C	XP_016865461.1:p.Thr37=
XM_017009973.1:c.111T>C	XP_016865462.1:p.Thr37=
XM_017009974.2:c.6993T>C	XP_016865463.1:p.Thr2331=
NR_003149.2:n.7009T>C