Canonical Allele Identifier: CA772779859

Gene: COL1A1

Linked Data

• dbSNP Id: rs1319523813
• gnomAD v4: 17-50185390-T-C
• MyVariant Identifiers: chr17:g.48262751T>C (hg19) ; chr17:g.50185390T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185390T>C , CM000679.2:g.50185390T>C	GRCh38
NC_000017.10:g.48262751T>C , CM000679.1:g.48262751T>C	GRCh37
NC_000017.9:g.45617750T>C	NCBI36
NG_007400.1:g.21250A>G , LRG_1:g.21250A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*112A>G MANE Select	ENSP00000225964.6:n.*112A>G
ENST00000225964.9:c.*112A>G	ENSP00000225964.5:n.*112A>G
NM_000088.3:c.*112A>G , LRG_1t1:c.*112A>G	NP_000079.2:n.*112A>G
XM_005257058.3:c.*112A>G	XP_005257115.2:n.*112A>G
XM_005257059.3:c.*112A>G	XP_005257116.2:n.*112A>G
XM_011524341.1:c.*112A>G	XP_011522643.1:n.*112A>G
XM_005257058.4:c.*112A>G	XP_005257115.2:n.*112A>G
XM_005257059.4:c.*112A>G	XP_005257116.2:n.*112A>G
NM_000088.4:c.*112A>G MANE Select	NP_000079.2:n.*112A>G