Canonical Allele Identifier: CA500850579
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1354641
ClinVar RCV Id: RCV001866524
dbSNP Id: rs1237735571
gnomAD v2: 17-48272163-A-T
gnomAD v3: 17-50194802-A-T
gnomAD v4: 17-50194802-A-T
MyVariant Identifiers: chr17:g.48272163A>T (hg19) chr17:g.50194802A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194802A>T , CM000679.2:g.50194802A>T GRCh38
NC_000017.10:g.48272163A>T , CM000679.1:g.48272163A>T GRCh37
NC_000017.9:g.45627162A>T NCBI36
NG_007400.1:g.11838T>A , LRG_1:g.11838T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1380T>A MANE Select ENSP00000225964.6:p.Pro460=
ENST00000225964.9:c.1380T>A ENSP00000225964.5:p.Pro460=
ENST00000471344.1:n.324T>A
NM_000088.3:c.1380T>A , LRG_1t1:c.1380T>A NP_000079.2:p.Pro460=
XM_005257058.3:c.1380T>A XP_005257115.2:p.Pro460=
XM_005257059.3:c.957+1512T>A XP_005257116.2:n.957+1512T>A
XM_011524341.1:c.1182T>A XP_011522643.1:p.Pro394=
XM_005257058.4:c.1380T>A XP_005257115.2:p.Pro460=
XM_005257059.4:c.957+1512T>A XP_005257116.2:n.957+1512T>A
NM_000088.4:c.1380T>A MANE Select NP_000079.2:p.Pro460=
Search 100 bp 5'
Search 100 bp 3'