Canonical Allele Identifier: CA400217743
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 456734
ClinVar RCV Id: RCV000559356 RCV002395293
dbSNP Id: rs1394634754
gnomAD v2: 17-48272120-G-T
gnomAD v3: 17-50194759-G-T
gnomAD v4: 17-50194759-G-T
MyVariant Identifiers: chr17:g.48272120G>T (hg19) chr17:g.50194759G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194759G>T , CM000679.2:g.50194759G>T GRCh38
NC_000017.10:g.48272120G>T , CM000679.1:g.48272120G>T GRCh37
NC_000017.9:g.45627119G>T NCBI36
NG_007400.1:g.11881C>A , LRG_1:g.11881C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1423C>A MANE Select ENSP00000225964.6:p.Pro475Thr
ENST00000225964.9:c.1423C>A ENSP00000225964.5:p.Pro475Thr
ENST00000471344.1:n.367C>A
NM_000088.3:c.1423C>A , LRG_1t1:c.1423C>A NP_000079.2:p.Pro475Thr
XM_005257058.3:c.1423C>A XP_005257115.2:p.Pro475Thr
XM_005257059.3:c.957+1555C>A XP_005257116.2:n.957+1555C>A
XM_011524341.1:c.1225C>A XP_011522643.1:p.Pro409Thr
XM_005257058.4:c.1423C>A XP_005257115.2:p.Pro475Thr
XM_005257059.4:c.957+1555C>A XP_005257116.2:n.957+1555C>A
NM_000088.4:c.1423C>A MANE Select NP_000079.2:p.Pro475Thr
Search 100 bp 5'
Search 100 bp 3'