Canonical Allele Identifier: CA984448744

Gene: COL1A1

Linked Data

• dbSNP Id: rs1906727466
• gnomAD v3: 17-50188169-C-CA
• gnomAD v4: 17-50188169-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188170dup , CM000679.2:g.50188170dup	GRCh38
NC_000017.10:g.48265531dup , CM000679.1:g.48265531dup	GRCh37
NC_000017.9:g.45620530dup	NCBI36
NG_007400.1:g.18470dup , LRG_1:g.18470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3208-21dup MANE Select	ENSP00000225964.6:n.3208-21dup
ENST00000225964.9:c.3208-21dup	ENSP00000225964.5:n.3208-21dup
ENST00000486572.1:n.385dup
ENST00000511732.1:n.511dup
NM_000088.3:c.3208-21dup , LRG_1t1:c.3208-21dup	NP_000079.2:n.3208-21dup
XM_005257058.3:c.2938-21dup	XP_005257115.2:n.2938-21dup
XM_005257059.3:c.2290-21dup	XP_005257116.2:n.2290-21dup
XM_011524341.1:c.3010-21dup	XP_011522643.1:n.3010-21dup
XM_005257058.4:c.2938-21dup	XP_005257115.2:n.2938-21dup
XM_005257059.4:c.2290-21dup	XP_005257116.2:n.2290-21dup
NM_000088.4:c.3208-21dup MANE Select	NP_000079.2:n.3208-21dup