Canonical Allele Identifier: CA3342263
Community Standard Title: NM_032119.4(ADGRV1):c.16999A>T (p.Met5667Leu)
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90840965A>T , CM000667.2:g.90840965A>T GRCh38
NC_000005.9:g.90136782A>T , CM000667.1:g.90136782A>T GRCh37
NC_000005.8:g.90172538A>T NCBI36
NG_007083.1:g.287166A>T
NG_007083.2:g.316622A>T

Transcript Alleles

HGVS Amino-acid Change
NM_032119.4:c.16999A>T MANE Select NP_115495.3:p.Met5667Leu
ENST00000405460.9:c.16999A>T MANE Select ENSP00000384582.2:p.Met5667Leu
NM_032119.3:c.16999A>T NP_115495.3:p.Met5667Leu
NR_003149.1:n.17012A>T
NR_003149.2:n.17015A>T
ENST00000405460.6:c.16999A>T ENSP00000384582.2:p.Met5667Leu
ENST00000425867.2:c.3982A>T ENSP00000392618.2:p.Met1328Leu
ENST00000425867.3:c.5953A>T ENSP00000392618.3:p.Met1985Leu
ENST00000638510.1:n.4266A>T
ENST00000638990.1:c.20A>T
ENST00000639431.1:c.266-144379A>T ENSP00000491057.1:n.266-144379A>T
ENST00000640061.1:n.516A>T
ENST00000640407.1:c.3448A>T ENSP00000491425.1:n.3448A>T
XM_011543675.1:c.16996A>T XP_011541977.1:p.Met5666Leu
XM_011543676.1:c.16918A>T XP_011541978.1:p.Met5640Leu
XM_011543677.1:c.14302A>T XP_011541979.1:p.Met4768Leu
XM_017009963.2:c.17020A>T XP_016865452.1:p.Met5674Leu
XM_017009964.2:c.17017A>T XP_016865453.1:p.Met5673Leu
XM_017009965.1:c.17017A>T XP_016865454.1:p.Met5673Leu
XM_017009966.2:c.16939A>T XP_016865455.1:p.Met5647Leu
XM_017009967.1:c.16924A>T XP_016865456.1:p.Met5642Leu
XM_017009968.2:c.16840A>T XP_016865457.1:p.Met5614Leu
XM_017009969.2:c.17020A>T XP_016865458.1:p.Met5674Leu
XM_017009972.1:c.10138A>T XP_016865461.1:p.Met3380Leu
XM_017009973.1:c.10117A>T XP_016865462.1:p.Met3373Leu