Canonical Allele Identifier: CA984448754

Gene: COL1A1

Linked Data

• dbSNP Id: rs1369249113
• gnomAD v3: 17-50188204-C-A
• gnomAD v4: 17-50188204-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188204C>A , CM000679.2:g.50188204C>A	GRCh38
NC_000017.10:g.48265565C>A , CM000679.1:g.48265565C>A	GRCh37
NC_000017.9:g.45620564C>A	NCBI36
NG_007400.1:g.18436G>T , LRG_1:g.18436G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3208-55G>T MANE Select	ENSP00000225964.6:n.3208-55G>T
ENST00000225964.9:c.3208-55G>T	ENSP00000225964.5:n.3208-55G>T
ENST00000486572.1:n.351G>T
ENST00000511732.1:n.477G>T
NM_000088.3:c.3208-55G>T , LRG_1t1:c.3208-55G>T	NP_000079.2:n.3208-55G>T
XM_005257058.3:c.2938-55G>T	XP_005257115.2:n.2938-55G>T
XM_005257059.3:c.2290-55G>T	XP_005257116.2:n.2290-55G>T
XM_011524341.1:c.3010-55G>T	XP_011522643.1:n.3010-55G>T
XM_005257058.4:c.2938-55G>T	XP_005257115.2:n.2938-55G>T
XM_005257059.4:c.2290-55G>T	XP_005257116.2:n.2290-55G>T
NM_000088.4:c.3208-55G>T MANE Select	NP_000079.2:n.3208-55G>T