Canonical Allele Identifier: CA10650523

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324069
• ClinVar RCV Id: RCV000301902 ; RCV000340545 ; RCV000402935 ; RCV003409509
• dbSNP Id: rs574167621
• gnomAD v2: 17-48261882-C-G
• gnomAD v3: 17-50184521-C-G
• gnomAD v4: 17-50184521-C-G
• MyVariant Identifiers: chr17:g.48261882C>G (hg19) ; chr17:g.50184521C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50184521C>G , CM000679.2:g.50184521C>G	GRCh38
NC_000017.10:g.48261882C>G , CM000679.1:g.48261882C>G	GRCh37
NC_000017.9:g.45616881C>G	NCBI36
NG_007400.1:g.22119G>C , LRG_1:g.22119G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*981G>C MANE Select	ENSP00000225964.6:n.*981G>C
ENST00000225964.9:c.*981G>C	ENSP00000225964.5:n.*981G>C
NM_000088.3:c.*981G>C , LRG_1t1:c.*981G>C	NP_000079.2:n.*981G>C
XM_005257058.3:c.*981G>C	XP_005257115.2:n.*981G>C
XM_005257059.3:c.*981G>C	XP_005257116.2:n.*981G>C
XM_011524341.1:c.*981G>C	XP_011522643.1:n.*981G>C
XM_005257058.4:c.*981G>C	XP_005257115.2:n.*981G>C
XM_005257059.4:c.*981G>C	XP_005257116.2:n.*981G>C
NM_000088.4:c.*981G>C MANE Select	NP_000079.2:n.*981G>C