Canonical Allele Identifier: CA2638708258

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188061-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188061T>C , CM000679.2:g.50188061T>C	GRCh38
NC_000017.10:g.48265422T>C , CM000679.1:g.48265422T>C	GRCh37
NC_000017.9:g.45620421T>C	NCBI36
NG_007400.1:g.18579A>G , LRG_1:g.18579A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3261+35A>G MANE Select	ENSP00000225964.6:n.3261+35A>G
ENST00000225964.9:c.3261+35A>G	ENSP00000225964.5:n.3261+35A>G
ENST00000486572.1:n.459+35A>G
ENST00000511732.1:n.620A>G
NM_000088.3:c.3261+35A>G , LRG_1t1:c.3261+35A>G	NP_000079.2:n.3261+35A>G
XM_005257058.3:c.2991+35A>G	XP_005257115.2:n.2991+35A>G
XM_005257059.3:c.2343+35A>G	XP_005257116.2:n.2343+35A>G
XM_011524341.1:c.3063+35A>G	XP_011522643.1:n.3063+35A>G
XM_005257058.4:c.2991+35A>G	XP_005257115.2:n.2991+35A>G
XM_005257059.4:c.2343+35A>G	XP_005257116.2:n.2343+35A>G
NM_000088.4:c.3261+35A>G MANE Select	NP_000079.2:n.3261+35A>G