Canonical Allele Identifier: CA351543954
Community Standard Title: NM_004628.5(XPC):c.1A>T (p.Met1Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14178568T>A , CM000665.2:g.14178568T>A GRCh38
NC_000003.11:g.14220068T>A , CM000665.1:g.14220068T>A GRCh37
NC_000003.10:g.14195072T>A NCBI36
NG_011763.1:g.5105A>T , LRG_472:g.5105A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004628.5:c.1A>T (XPC) MANE Select NP_004619.3:p.Met1Leu
ENST00000285021.12:c.1A>T (XPC) MANE Select ENSP00000285021.8:p.Met1Leu
NM_001354726.1:c.-455A>T (XPC) NP_001341655.1:n.-455A>T
NM_001354726.2:c.-455A>T (XPC) NP_001341655.1:n.-455A>T
NM_001354727.1:c.1A>T (XPC) NP_001341656.1:p.Met1Leu
NM_001354727.2:c.1A>T (XPC) NP_001341656.1:p.Met1Leu
NM_001354729.1:c.1A>T (XPC) NP_001341658.1:p.Met1Leu
NM_001354729.2:c.1A>T (XPC) NP_001341658.1:p.Met1Leu
NM_001354730.1:c.1A>T (XPC) NP_001341659.1:p.Met1Leu
NM_001354730.2:c.1A>T (XPC) NP_001341659.1:p.Met1Leu
NM_004628.4:c.1A>T , LRG_472t1:c.1A>T (XPC) NP_004619.3:p.Met1Leu
NR_027299.1:n.105A>T (XPC)
NR_148950.1:n.105A>T (XPC)
NR_148950.2:n.34A>T (XPC)
NR_148951.1:n.105A>T (XPC)
NR_148951.2:n.34A>T (XPC)
ENST00000285021.11:c.1A>T (XPC) ENSP00000285021.7:p.Met1Leu
ENST00000306024.3:c.-293T>A (LSM3) ENSP00000302160.3:n.-293T>A
ENST00000476581.6:c.1A>T (XPC) ENSP00000424548.1:p.Met1Leu
ENST00000511155.1:c.1A>T (XPC) ENSP00000423867.1:p.Met1Leu
XM_011534092.1:c.1A>T (XPC) XP_011532394.1:p.Met1Leu
XM_011534093.1:c.1A>T (XPC) XP_011532395.1:p.Met1Leu
XR_001740256.2:n.34A>T (XPC)
XR_002959580.1:n.34A>T (XPC)
XR_002959581.1:n.34A>T (XPC)