Canonical Allele Identifier: CA291547603

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 546097
• ClinVar RCV Id: RCV000657899
• dbSNP Id: rs72645317
• MyVariant Identifiers: chr17:g.48274424C>A (hg19) ; chr17:g.50197063C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197063C>A , CM000679.2:g.50197063C>A	GRCh38
NC_000017.10:g.48274424C>A , CM000679.1:g.48274424C>A	GRCh37
NC_000017.9:g.45629423C>A	NCBI36
NG_007400.1:g.9577G>T , LRG_1:g.9577G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.751G>T MANE Select	ENSP00000225964.6:p.Gly251Cys
ENST00000225964.9:c.751G>T	ENSP00000225964.5:p.Gly251Cys
ENST00000495677.1:n.478G>T
NM_000088.3:c.751G>T , LRG_1t1:c.751G>T	NP_000079.2:p.Gly251Cys
XM_005257058.3:c.751G>T	XP_005257115.2:p.Gly251Cys
XM_005257059.3:c.751G>T	XP_005257116.2:p.Gly251Cys
XM_011524341.1:c.751G>T	XP_011522643.1:p.Gly251Cys
XM_005257058.4:c.751G>T	XP_005257115.2:p.Gly251Cys
XM_005257059.4:c.751G>T	XP_005257116.2:p.Gly251Cys
NM_000088.4:c.751G>T MANE Select	NP_000079.2:p.Gly251Cys