Canonical Allele Identifier: CA8645059
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2887644
ClinVar RCV Id: RCV003632499
dbSNP Id: rs781086475
ExAC: 17:48270182 T / C
gnomAD v2: 17-48270182-T-C
gnomAD v4: 17-50192821-T-C
MyVariant Identifiers: chr17:g.48270182T>C (hg19) chr17:g.50192821T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50192821T>C , CM000679.2:g.50192821T>C GRCh38
NC_000017.10:g.48270182T>C , CM000679.1:g.48270182T>C GRCh37
NC_000017.9:g.45625181T>C NCBI36
NG_007400.1:g.13819A>G , LRG_1:g.13819A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1851A>G MANE Select ENSP00000225964.6:p.Gly617=
ENST00000225964.9:c.1851A>G ENSP00000225964.5:p.Gly617=
ENST00000476387.1:n.200A>G
NM_000088.3:c.1851A>G , LRG_1t1:c.1851A>G NP_000079.2:p.Gly617=
XM_005257058.3:c.1851A>G XP_005257115.2:p.Gly617=
XM_005257059.3:c.958-128A>G XP_005257116.2:n.958-128A>G
XM_011524341.1:c.1653A>G XP_011522643.1:p.Gly551=
XM_005257058.4:c.1851A>G XP_005257115.2:p.Gly617=
XM_005257059.4:c.958-128A>G XP_005257116.2:n.958-128A>G
NM_000088.4:c.1851A>G MANE Select NP_000079.2:p.Gly617=
Search 100 bp 5'
Search 100 bp 3'