Canonical Allele Identifier: CA400213879

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907197945
• gnomAD v4: 17-50192679-C-G
• MyVariant Identifiers: chr17:g.48270040C>G (hg19) ; chr17:g.50192679C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192679C>G , CM000679.2:g.50192679C>G	GRCh38
NC_000017.10:g.48270040C>G , CM000679.1:g.48270040C>G	GRCh37
NC_000017.9:g.45625039C>G	NCBI36
NG_007400.1:g.13961G>C , LRG_1:g.13961G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1890G>C MANE Select	ENSP00000225964.6:p.Glu630Asp
ENST00000225964.9:c.1890G>C	ENSP00000225964.5:p.Glu630Asp
ENST00000476387.1:n.239G>C
NM_000088.3:c.1890G>C , LRG_1t1:c.1890G>C	NP_000079.2:p.Glu630Asp
XM_005257058.3:c.1890G>C	XP_005257115.2:p.Glu630Asp
XM_005257059.3:c.972G>C	XP_005257116.2:p.Glu324Asp
XM_011524341.1:c.1692G>C	XP_011522643.1:p.Glu564Asp
XM_005257058.4:c.1890G>C	XP_005257115.2:p.Glu630Asp
XM_005257059.4:c.972G>C	XP_005257116.2:p.Glu324Asp
NM_000088.4:c.1890G>C MANE Select	NP_000079.2:p.Glu630Asp