Canonical Allele Identifier: CA984451789

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907574880
• gnomAD v3: 17-50196215-G-GA
• gnomAD v4: 17-50196215-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196217dup , CM000679.2:g.50196217dup	GRCh38
NC_000017.10:g.48273578dup , CM000679.1:g.48273578dup	GRCh37
NC_000017.9:g.45628577dup	NCBI36
NG_007400.1:g.10424dup , LRG_1:g.10424dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.958-17dup MANE Select	ENSP00000225964.6:n.958-17dup
ENST00000225964.9:c.958-17dup	ENSP00000225964.5:n.958-17dup
ENST00000485870.1:n.283-17dup
NM_000088.3:c.958-17dup , LRG_1t1:c.958-17dup	NP_000079.2:n.958-17dup
XM_005257058.3:c.958-17dup	XP_005257115.2:n.958-17dup
XM_005257059.3:c.957+98dup	XP_005257116.2:n.957+98dup
XM_011524341.1:c.957+98dup	XP_011522643.1:n.957+98dup
XM_005257058.4:c.958-17dup	XP_005257115.2:n.958-17dup
XM_005257059.4:c.957+98dup	XP_005257116.2:n.957+98dup
NM_000088.4:c.958-17dup MANE Select	NP_000079.2:n.958-17dup