Canonical Allele Identifier: CA7040901
Gene: BIVM HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102839783C>T , CM000675.2:g.102839783C>T GRCh38
NC_000013.10:g.103492133C>T , CM000675.1:g.103492133C>T GRCh37
NC_000013.9:g.102290134C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_017693.4:c.1430C>T (BIVM) MANE Select NP_060163.2:p.Ser477Leu
ENST00000257336.6:c.1430C>T (BIVM) MANE Select ENSP00000257336.1:p.Ser477Leu
NM_001159596.1:c.764C>T (BIVM) NP_001153068.1:p.Ser255Leu
NM_001159596.2:c.764C>T (BIVM) NP_001153068.1:p.Ser255Leu
NM_001204425.1:c.1430C>T (BIVM-ERCC5) NP_001191354.1:p.Ser477Leu
NM_001204425.2:c.1430C>T (BIVM-ERCC5) NP_001191354.2:p.Ser477Leu
NM_017693.3:c.1430C>T (BIVM) NP_060163.2:p.Ser477Leu
ENST00000257336.5:c.1430C>T (BIVM) ENSP00000257336.1:p.Ser477Leu
ENST00000448849.2:c.764C>T (BIVM) ENSP00000412794.2:p.Ser255Leu
ENST00000448849.3:c.764C>T (BIVM) ENSP00000412794.2:p.Ser255Leu
ENST00000490317.1:n.1475C>T (BIVM)
ENST00000602836.1:c.1344C>T (BIVM-ERCC5)
ENST00000638434.1:c.363-13974C>T (BIVM-ERCC5)
ENST00000639118.1:c.363-9335C>T (BIVM-ERCC5)
ENST00000639132.1:c.743C>T (BIVM-ERCC5) ENSP00000492684.1:p.Ser248Leu
ENST00000639435.1:c.1430C>T (BIVM-ERCC5) ENSP00000491742.1:p.Ser477Leu
ENST00000651008.1:c.743C>T (BIVM) ENSP00000498638.1:p.Ser248Leu
ENST00000651048.1:c.*283C>T (BIVM) ENSP00000498297.1:n.*283C>T
ENST00000651228.1:c.1523C>T (BIVM) ENSP00000498493.1:p.Ser508Leu
ENST00000651808.1:c.*1329C>T (BIVM) ENSP00000498252.1:n.*1329C>T
ENST00000651855.1:c.*1520C>T (BIVM) ENSP00000498508.1:n.*1520C>T
ENST00000651949.1:c.743C>T (BIVM) ENSP00000498968.1:p.Ser248Leu
ENST00000652006.1:c.*352C>T (BIVM) ENSP00000498585.1:n.*352C>T
ENST00000652084.1:c.1430C>T (BIVM) ENSP00000498544.1:p.Ser477Leu
ENST00000652766.1:c.*486C>T (BIVM) ENSP00000499207.1:n.*486C>T