Canonical Allele Identifier: CA3341378
Community Standard Title: NM_032119.4(ADGRV1):c.12914T>C (p.Met4305Thr)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90778929T>C , CM000667.2:g.90778929T>C GRCh38
NC_000005.9:g.90074746T>C , CM000667.1:g.90074746T>C GRCh37
NC_000005.8:g.90110502T>C NCBI36
NG_007083.1:g.225130T>C
NG_007083.2:g.254586T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.12914T>C MANE Select NP_115495.3:p.Met4305Thr
ENST00000405460.9:c.12914T>C MANE Select ENSP00000384582.2:p.Met4305Thr
NM_032119.3:c.12914T>C NP_115495.3:p.Met4305Thr
NR_003149.1:n.12927T>C
NR_003149.2:n.12930T>C
ENST00000405460.6:c.12914T>C ENSP00000384582.2:p.Met4305Thr
ENST00000425867.3:c.1868T>C ENSP00000392618.3:p.Met623Thr
ENST00000639431.1:c.265+102720T>C ENSP00000491057.1:n.265+102720T>C
ENST00000640464.1:n.3333T>C
XM_011543675.1:c.12911T>C XP_011541977.1:p.Met4304Thr
XM_011543676.1:c.12833T>C XP_011541978.1:p.Met4278Thr
XM_011543677.1:c.10217T>C XP_011541979.1:p.Met3406Thr
XM_011543678.1:c.12914T>C XP_011541980.1:p.Met4305Thr
XM_017009963.2:c.12935T>C XP_016865452.1:p.Met4312Thr
XM_017009964.2:c.12932T>C XP_016865453.1:p.Met4311Thr
XM_017009965.1:c.12932T>C XP_016865454.1:p.Met4311Thr
XM_017009966.2:c.12854T>C XP_016865455.1:p.Met4285Thr
XM_017009967.1:c.12839T>C XP_016865456.1:p.Met4280Thr
XM_017009968.2:c.12935T>C XP_016865457.1:p.Met4312Thr
XM_017009969.2:c.12935T>C XP_016865458.1:p.Met4312Thr
XM_017009970.2:c.12935T>C XP_016865459.1:p.Met4312Thr
XM_017009971.2:c.12935T>C XP_016865460.1:p.Met4312Thr
XM_017009972.1:c.6053T>C XP_016865461.1:p.Met2018Thr
XM_017009973.1:c.6032T>C XP_016865462.1:p.Met2011Thr