Canonical Allele Identifier: CA2243936475
Community Standard Title: NM_080704.4(TRPV1):c.2157G= (p.Lys719=)
Gene: TRPV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3572196C= , CM000679.2:g.3572196C= GRCh38
NC_000017.10:g.3475490C= , CM000679.1:g.3475490C= GRCh37
NC_000017.9:g.3422240C= NCBI36
NG_029716.1:g.42216G=

Transcript Alleles

HGVS Amino-acid Change
NM_080704.4:c.2157G= MANE Select NP_542435.2:p.Lys719=
ENST00000572705.2:c.2157G= MANE Select ENSP00000459962.1:p.Lys719=
NM_018727.5:c.2157G= NP_061197.4:p.Lys719=
NM_080704.3:c.2157G= NP_542435.2:p.Lys719=
NM_080705.3:c.2157G= NP_542436.2:p.Lys719=
NM_080705.4:c.2157G= NP_542436.2:p.Lys719=
NM_080706.3:c.2157G= NP_542437.2:p.Lys719=
ENST00000310522.5:c.1977G= ENSP00000311692.5:p.Lys659=
ENST00000399756.8:c.2157G= ENSP00000382659.4:p.Lys719=
ENST00000399759.7:c.2157G= ENSP00000382661.3:p.Lys719=
ENST00000425167.6:c.2190G= ENSP00000409627.2:p.Lys730=
ENST00000571088.5:c.2157G= ENSP00000461007.1:p.Lys719=
ENST00000572705.1:c.2157G= ENSP00000459962.1:p.Lys719=
ENST00000574085.5:n.2244G=
ENST00000576351.5:c.2127G= ENSP00000459042.1:p.Lys709=
ENST00000650505.1:c.*638G= ENSP00000497337.1:n.*638G=