Canonical Allele Identifier: CA400191518

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1163607
• ClinVar RCV Id: RCV001508815
• dbSNP Id: rs1279465588
• gnomAD v2: 17-48263174-G-A
• gnomAD v3: 17-50185813-G-A
• gnomAD v4: 17-50185813-G-A
• MyVariant Identifiers: chr17:g.48263174G>A (hg19) ; chr17:g.50185813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185813G>A , CM000679.2:g.50185813G>A	GRCh38
NC_000017.10:g.48263174G>A , CM000679.1:g.48263174G>A	GRCh37
NC_000017.9:g.45618173G>A	NCBI36
NG_007400.1:g.20827C>T , LRG_1:g.20827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4213C>T MANE Select	ENSP00000225964.6:p.Arg1405Cys
ENST00000225964.9:c.4213C>T	ENSP00000225964.5:p.Arg1405Cys
NM_000088.3:c.4213C>T , LRG_1t1:c.4213C>T	NP_000079.2:p.Arg1405Cys
XM_005257058.3:c.3943C>T	XP_005257115.2:p.Arg1315Cys
XM_005257059.3:c.3295C>T	XP_005257116.2:p.Arg1099Cys
XM_011524341.1:c.4015C>T	XP_011522643.1:p.Arg1339Cys
XM_005257058.4:c.3943C>T	XP_005257115.2:p.Arg1315Cys
XM_005257059.4:c.3295C>T	XP_005257116.2:p.Arg1099Cys
NM_000088.4:c.4213C>T MANE Select	NP_000079.2:p.Arg1405Cys