Canonical Allele Identifier: CA351538057

Gene: XPC

Linked Data

• COSMIC: COSM6266259
• MyVariant Identifiers: chr3:g.14190337G>T (hg19) ; chr3:g.14148837G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148837G>T , CM000665.2:g.14148837G>T	GRCh38
NC_000003.11:g.14190337G>T , CM000665.1:g.14190337G>T	GRCh37
NC_000003.10:g.14165338G>T	NCBI36
NG_011763.1:g.34836C>A , LRG_472:g.34836C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2227C>A MANE Select	ENSP00000285021.8:p.Pro743Thr
ENST00000285021.11:c.2227C>A	ENSP00000285021.7:p.Pro743Thr
ENST00000427795.2:n.92C>A
ENST00000476581.6:c.*1680C>A	ENSP00000424548.1:n.*1680C>A
NM_004628.4:c.2227C>A , LRG_472t1:c.2227C>A	NP_004619.3:p.Pro743Thr
NR_027299.1:n.2207C>A
XM_011534092.1:c.2227C>A	XP_011532394.1:p.Pro743Thr
NM_001354726.1:c.1648C>A	NP_001341655.1:p.Pro550Thr
NM_001354727.1:c.2221C>A	NP_001341656.1:p.Pro741Thr
NM_001354729.1:c.2209C>A	NP_001341658.1:p.Pro737Thr
NM_001354730.1:c.1981C>A	NP_001341659.1:p.Pro661Thr
NR_148950.1:n.2170C>A
NR_148951.1:n.2046C>A
XR_001740256.2:n.2260C>A
XR_002959580.1:n.2260C>A
XR_002959581.1:n.3877C>A
NM_001354727.2:c.2221C>A	NP_001341656.1:p.Pro741Thr
NM_004628.5:c.2227C>A MANE Select	NP_004619.3:p.Pro743Thr
NR_148950.2:n.2099C>A
NR_148951.2:n.1975C>A
NM_001354726.2:c.1648C>A	NP_001341655.1:p.Pro550Thr
NM_001354729.2:c.2209C>A	NP_001341658.1:p.Pro737Thr
NM_001354730.2:c.1981C>A	NP_001341659.1:p.Pro661Thr