Canonical Allele Identifier: CA291542908

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 425589
• ClinVar RCV Id: RCV000490739 ; RCV000586484 ; RCV000755941 ; RCV001814161 ; RCV002281097
• dbSNP Id: rs67815019
• MyVariant Identifiers: chr17:g.48264402C>T (hg19) ; chr17:g.50187041C>T (hg38)
• PubMed: PMID:17078022 ; PMID:25944380 ; PMID:26712438

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50187041C>T , CM000679.2:g.50187041C>T	GRCh38
NC_000017.10:g.48264402C>T , CM000679.1:g.48264402C>T	GRCh37
NC_000017.9:g.45619401C>T	NCBI36
NG_007400.1:g.19599G>A , LRG_1:g.19599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3505G>A MANE Select	ENSP00000225964.6:p.Gly1169Ser
ENST00000225964.9:c.3505G>A	ENSP00000225964.5:p.Gly1169Ser
ENST00000510710.3:n.82G>A
NM_000088.3:c.3505G>A , LRG_1t1:c.3505G>A	NP_000079.2:p.Gly1169Ser
XM_005257058.3:c.3235G>A	XP_005257115.2:p.Gly1079Ser
XM_005257059.3:c.2587G>A	XP_005257116.2:p.Gly863Ser
XM_011524341.1:c.3307G>A	XP_011522643.1:p.Gly1103Ser
XM_005257058.4:c.3235G>A	XP_005257115.2:p.Gly1079Ser
XM_005257059.4:c.2587G>A	XP_005257116.2:p.Gly863Ser
NM_000088.4:c.3505G>A MANE Select	NP_000079.2:p.Gly1169Ser