Canonical Allele Identifier: CA341441
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17347
ClinVar RCV Id: RCV000018889 RCV000420639 RCV000685879 RCV000763407
dbSNP Id: rs72653170
ExAC: 17:48266269 G / A
gnomAD v2: 17-48266269-G-A
gnomAD v4: 17-50188908-G-A
MyVariant Identifiers: chr17:g.48266269G>A (hg19) chr17:g.50188908G>A (hg38)
PubMed: PMID:15864348 PMID:17309652 PMID:18553566 PMID:22855962
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188908G>A , CM000679.2:g.50188908G>A GRCh38
NC_000017.10:g.48266269G>A , CM000679.1:g.48266269G>A GRCh37
NC_000017.9:g.45621268G>A NCBI36
NG_007400.1:g.17732C>T , LRG_1:g.17732C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.3040C>T MANE Select ENSP00000225964.6:p.Arg1014Cys
ENST00000225964.9:c.3040C>T ENSP00000225964.5:p.Arg1014Cys
NM_000088.3:c.3040C>T , LRG_1t1:c.3040C>T NP_000079.2:p.Arg1014Cys
XM_005257058.3:c.2770C>T XP_005257115.2:p.Arg924Cys
XM_005257059.3:c.2122C>T XP_005257116.2:p.Arg708Cys
XM_011524341.1:c.2842C>T XP_011522643.1:p.Arg948Cys
XM_005257058.4:c.2770C>T XP_005257115.2:p.Arg924Cys
XM_005257059.4:c.2122C>T XP_005257116.2:p.Arg708Cys
NM_000088.4:c.3040C>T MANE Select NP_000079.2:p.Arg1014Cys
Search 100 bp 5'
Search 100 bp 3'