Canonical Allele Identifier: CA257899

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 17330
• ClinVar RCV Id: RCV000018871 ; RCV000518360 ; RCV001245193
• dbSNP Id: rs72653178
• MyVariant Identifiers: chr17:g.48265980C>T (hg19) ; chr17:g.50188619C>T (hg38)
• PubMed: PMID:7789952 ; PMID:8125479 ; PMID:9101304 ; PMID:18670065 ; PMID:18798308 ; PMID:25944380

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188619C>T , CM000679.2:g.50188619C>T	GRCh38
NC_000017.10:g.48265980C>T , CM000679.1:g.48265980C>T	GRCh37
NC_000017.9:g.45620979C>T	NCBI36
NG_007400.1:g.18021G>A , LRG_1:g.18021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3118G>A MANE Select	ENSP00000225964.6:p.Gly1040Ser
ENST00000225964.9:c.3118G>A	ENSP00000225964.5:p.Gly1040Ser
ENST00000511732.1:n.62G>A
NM_000088.3:c.3118G>A , LRG_1t1:c.3118G>A	NP_000079.2:p.Gly1040Ser
XM_005257058.3:c.2848G>A	XP_005257115.2:p.Gly950Ser
XM_005257059.3:c.2200G>A	XP_005257116.2:p.Gly734Ser
XM_011524341.1:c.2920G>A	XP_011522643.1:p.Gly974Ser
XM_005257058.4:c.2848G>A	XP_005257115.2:p.Gly950Ser
XM_005257059.4:c.2200G>A	XP_005257116.2:p.Gly734Ser
NM_000088.4:c.3118G>A MANE Select	NP_000079.2:p.Gly1040Ser