Canonical Allele Identifier: CA500850062
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1089736
ClinVar RCV Id: RCV001408643 RCV002395923
dbSNP Id: rs1240489656
gnomAD v2: 17-48272139-C-T
gnomAD v3: 17-50194778-C-T
gnomAD v4: 17-50194778-C-T
MyVariant Identifiers: chr17:g.48272139C>T (hg19) chr17:g.50194778C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194778C>T , CM000679.2:g.50194778C>T GRCh38
NC_000017.10:g.48272139C>T , CM000679.1:g.48272139C>T GRCh37
NC_000017.9:g.45627138C>T NCBI36
NG_007400.1:g.11862G>A , LRG_1:g.11862G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1404G>A MANE Select ENSP00000225964.6:p.Lys468=
ENST00000225964.9:c.1404G>A ENSP00000225964.5:p.Lys468=
ENST00000471344.1:n.348G>A
NM_000088.3:c.1404G>A , LRG_1t1:c.1404G>A NP_000079.2:p.Lys468=
XM_005257058.3:c.1404G>A XP_005257115.2:p.Lys468=
XM_005257059.3:c.957+1536G>A XP_005257116.2:n.957+1536G>A
XM_011524341.1:c.1206G>A XP_011522643.1:p.Lys402=
XM_005257058.4:c.1404G>A XP_005257115.2:p.Lys468=
XM_005257059.4:c.957+1536G>A XP_005257116.2:n.957+1536G>A
NM_000088.4:c.1404G>A MANE Select NP_000079.2:p.Lys468=
Search 100 bp 5'
Search 100 bp 3'