Canonical Allele Identifier: CA626485665

Gene: COL1A1

Linked Data

• dbSNP Id: rs1302623641
• gnomAD v2: 17-48262335-C-A
• gnomAD v3: 17-50184974-C-A
• gnomAD v4: 17-50184974-C-A
• MyVariant Identifiers: chr17:g.48262335C>A (hg19) ; chr17:g.50184974C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50184974C>A , CM000679.2:g.50184974C>A	GRCh38
NC_000017.10:g.48262335C>A , CM000679.1:g.48262335C>A	GRCh37
NC_000017.9:g.45617334C>A	NCBI36
NG_007400.1:g.21666G>T , LRG_1:g.21666G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*528G>T MANE Select	ENSP00000225964.6:n.*528G>T
ENST00000225964.9:c.*528G>T	ENSP00000225964.5:n.*528G>T
NM_000088.3:c.*528G>T , LRG_1t1:c.*528G>T	NP_000079.2:n.*528G>T
XM_005257058.3:c.*528G>T	XP_005257115.2:n.*528G>T
XM_005257059.3:c.*528G>T	XP_005257116.2:n.*528G>T
XM_011524341.1:c.*528G>T	XP_011522643.1:n.*528G>T
XM_005257058.4:c.*528G>T	XP_005257115.2:n.*528G>T
XM_005257059.4:c.*528G>T	XP_005257116.2:n.*528G>T
NM_000088.4:c.*528G>T MANE Select	NP_000079.2:n.*528G>T