Canonical Allele Identifier: CA322728
Gene: COL5A1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134824793C>T , CM000671.2:g.134824793C>T GRCh38
NC_000009.11:g.137716639C>T , CM000671.1:g.137716639C>T GRCh37
NC_000009.10:g.136856460C>T NCBI36
NG_008030.1:g.187988C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.4892C>T ENSP00000360885.4:p.Thr1631Met
ENST00000371817.8:c.4892C>T MANE Select ENSP00000360882.3:p.Thr1631Met
ENST00000371817.7:c.4892C>T ENSP00000360882.3:p.Thr1631Met
ENST00000371820.3:c.150C>T
ENST00000460264.5:n.360C>T
ENST00000465877.1:n.72C>T
ENST00000618395.4:c.4892C>T ENSP00000481360.1:p.Thr1631Met
NM_000093.4:c.4892C>T NP_000084.3:p.Thr1631Met
NM_001278074.1:c.4892C>T NP_001265003.1:p.Thr1631Met
NR_103451.2:n.71-4584G>A
XR_929712.1:n.5294C>T
XR_929713.1:n.5294C>T
XM_017014266.2:c.4892C>T XP_016869755.1:p.Thr1631Met
XR_001746183.1:n.5290C>T
NM_000093.5:c.4892C>T MANE Select NP_000084.3:p.Thr1631Met