Canonical Allele Identifier: CA400191138

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 949245
• ClinVar RCV Id: RCV001220663
• dbSNP Id: rs1906450804
• gnomAD v4: 17-50185779-G-A
• COSMIC: COSM1610446
• MyVariant Identifiers: chr17:g.48263140G>A (hg19) ; chr17:g.50185779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185779G>A , CM000679.2:g.50185779G>A	GRCh38
NC_000017.10:g.48263140G>A , CM000679.1:g.48263140G>A	GRCh37
NC_000017.9:g.45618139G>A	NCBI36
NG_007400.1:g.20861C>T , LRG_1:g.20861C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.4247C>T MANE Select	ENSP00000225964.6:p.Thr1416Met
ENST00000225964.9:c.4247C>T	ENSP00000225964.5:p.Thr1416Met
NM_000088.3:c.4247C>T , LRG_1t1:c.4247C>T	NP_000079.2:p.Thr1416Met
XM_005257058.3:c.3977C>T	XP_005257115.2:p.Thr1326Met
XM_005257059.3:c.3329C>T	XP_005257116.2:p.Thr1110Met
XM_011524341.1:c.4049C>T	XP_011522643.1:p.Thr1350Met
XM_005257058.4:c.3977C>T	XP_005257115.2:p.Thr1326Met
XM_005257059.4:c.3329C>T	XP_005257116.2:p.Thr1110Met
NM_000088.4:c.4247C>T MANE Select	NP_000079.2:p.Thr1416Met