Canonical Allele Identifier: CA3339277
Community Standard Title: NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90653567C>T , CM000667.2:g.90653567C>T GRCh38
NC_000005.9:g.89949384C>T , CM000667.1:g.89949384C>T GRCh37
NC_000005.8:g.89985140C>T NCBI36
NG_007083.1:g.99768C>T
NG_007083.2:g.129224C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.3993C>T MANE Select NP_115495.3:p.Thr1331=
ENST00000405460.9:c.3993C>T MANE Select ENSP00000384582.2:p.Thr1331=
NM_032119.3:c.3993C>T NP_115495.3:p.Thr1331=
NR_003149.1:n.4089C>T
NR_003149.2:n.4092C>T
ENST00000405460.6:c.3993C>T ENSP00000384582.2:p.Thr1331=
ENST00000504142.1:c.2758C>T
ENST00000504142.2:n.2759C>T
ENST00000639676.1:n.1591C>T
ENST00000640403.1:c.1284C>T ENSP00000492531.1:p.Thr428=
XM_011543675.1:c.3993C>T XP_011541977.1:p.Thr1331=
XM_011543676.1:c.3993C>T XP_011541978.1:p.Thr1331=
XM_011543677.1:c.1296C>T XP_011541979.1:p.Thr432=
XM_011543678.1:c.3993C>T XP_011541980.1:p.Thr1331=
XM_011543679.1:c.3993C>T XP_011541981.1:p.Thr1331=
XM_017009963.2:c.3993C>T XP_016865452.1:p.Thr1331=
XM_017009964.2:c.3993C>T XP_016865453.1:p.Thr1331=
XM_017009965.1:c.3990C>T XP_016865454.1:p.Thr1330=
XM_017009966.2:c.3993C>T XP_016865455.1:p.Thr1331=
XM_017009967.1:c.3897C>T XP_016865456.1:p.Thr1299=
XM_017009968.2:c.3993C>T XP_016865457.1:p.Thr1331=
XM_017009969.2:c.3993C>T XP_016865458.1:p.Thr1331=
XM_017009970.2:c.3993C>T XP_016865459.1:p.Thr1331=
XM_017009971.2:c.3993C>T XP_016865460.1:p.Thr1331=
XM_017009974.2:c.3993C>T XP_016865463.1:p.Thr1331=