Canonical Allele Identifier: CA400213650

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1352328
• ClinVar RCV Id: RCV002047521
• dbSNP Id: rs1598293646
• MyVariant Identifiers: chr17:g.48270008C>G (hg19) ; chr17:g.50192647C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192647C>G , CM000679.2:g.50192647C>G	GRCh38
NC_000017.10:g.48270008C>G , CM000679.1:g.48270008C>G	GRCh37
NC_000017.9:g.45625007C>G	NCBI36
NG_007400.1:g.13993G>C , LRG_1:g.13993G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1922G>C MANE Select	ENSP00000225964.6:p.Gly641Ala
ENST00000225964.9:c.1922G>C	ENSP00000225964.5:p.Gly641Ala
ENST00000476387.1:n.271G>C
NM_000088.3:c.1922G>C , LRG_1t1:c.1922G>C	NP_000079.2:p.Gly641Ala
XM_005257058.3:c.1922G>C	XP_005257115.2:p.Gly641Ala
XM_005257059.3:c.1004G>C	XP_005257116.2:p.Gly335Ala
XM_011524341.1:c.1724G>C	XP_011522643.1:p.Gly575Ala
XM_005257058.4:c.1922G>C	XP_005257115.2:p.Gly641Ala
XM_005257059.4:c.1004G>C	XP_005257116.2:p.Gly335Ala
NM_000088.4:c.1922G>C MANE Select	NP_000079.2:p.Gly641Ala