Canonical Allele Identifier: CA2263913575

Gene: COL1A1

Linked Data

• dbSNP Id: rs572791972
• gnomAD v4: 17-50185359-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185366dup , CM000679.2:g.50185366dup	GRCh38
NC_000017.10:g.48262727dup , CM000679.1:g.48262727dup	GRCh37
NC_000017.9:g.45617726dup	NCBI36
NG_007400.1:g.21280dup , LRG_1:g.21280dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*142dup MANE Select	ENSP00000225964.6:n.*142dup
ENST00000225964.9:c.*142dup	ENSP00000225964.5:n.*142dup
NM_000088.3:c.*142dup , LRG_1t1:c.*142dup	NP_000079.2:n.*142dup
XM_005257058.3:c.*142dup	XP_005257115.2:n.*142dup
XM_005257059.3:c.*142dup	XP_005257116.2:n.*142dup
XM_011524341.1:c.*142dup	XP_011522643.1:n.*142dup
XM_005257058.4:c.*142dup	XP_005257115.2:n.*142dup
XM_005257059.4:c.*142dup	XP_005257116.2:n.*142dup
NM_000088.4:c.*142dup MANE Select	NP_000079.2:n.*142dup