Canonical Allele Identifier: CA984451188

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907343717
• gnomAD v3: 17-50194102-C-A
• gnomAD v4: 17-50194102-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194102C>A , CM000679.2:g.50194102C>A	GRCh38
NC_000017.10:g.48271463C>A , CM000679.1:g.48271463C>A	GRCh37
NC_000017.9:g.45626462C>A	NCBI36
NG_007400.1:g.12538G>T , LRG_1:g.12538G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1668+28G>T MANE Select	ENSP00000225964.6:n.1668+28G>T
ENST00000225964.9:c.1668+28G>T	ENSP00000225964.5:n.1668+28G>T
ENST00000463440.1:n.58+28G>T
ENST00000471344.1:n.640G>T
NM_000088.3:c.1668+28G>T , LRG_1t1:c.1668+28G>T	NP_000079.2:n.1668+28G>T
XM_005257058.3:c.1668+28G>T	XP_005257115.2:n.1668+28G>T
XM_005257059.3:c.958-1409G>T	XP_005257116.2:n.958-1409G>T
XM_011524341.1:c.1470+28G>T	XP_011522643.1:n.1470+28G>T
XM_005257058.4:c.1668+28G>T	XP_005257115.2:n.1668+28G>T
XM_005257059.4:c.958-1409G>T	XP_005257116.2:n.958-1409G>T
NM_000088.4:c.1668+28G>T MANE Select	NP_000079.2:n.1668+28G>T