Canonical Allele Identifier: CA375460863
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459712
ClinVar RCV Id: RCV002231309
dbSNP Id: rs1554726285
MyVariant Identifiers: chr9:g.137727001T>C (hg19) chr9:g.134835155T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835155T>C , CM000671.2:g.134835155T>C GRCh38
NC_000009.11:g.137727001T>C , CM000671.1:g.137727001T>C GRCh37
NC_000009.10:g.136866822T>C NCBI36
NG_008030.1:g.198350T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5321T>C ENSP00000360885.4:p.Met1774Thr
ENST00000371817.8:c.5321T>C MANE Select ENSP00000360882.3:p.Met1774Thr
ENST00000371817.7:c.5321T>C ENSP00000360882.3:p.Met1774Thr
ENST00000371820.3:c.579T>C
ENST00000618395.4:c.5321T>C ENSP00000481360.1:p.Met1774Thr
NM_000093.4:c.5321T>C NP_000084.3:p.Met1774Thr
NM_001278074.1:c.5321T>C NP_001265003.1:p.Met1774Thr
NR_103451.2:n.71-14946A>G
NM_000093.5:c.5321T>C MANE Select NP_000084.3:p.Met1774Thr
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