Canonical Allele Identifier: CA2638710167

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194097-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194097A>G , CM000679.2:g.50194097A>G	GRCh38
NC_000017.10:g.48271458A>G , CM000679.1:g.48271458A>G	GRCh37
NC_000017.9:g.45626457A>G	NCBI36
NG_007400.1:g.12543T>C , LRG_1:g.12543T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1668+33T>C MANE Select	ENSP00000225964.6:n.1668+33T>C
ENST00000225964.9:c.1668+33T>C	ENSP00000225964.5:n.1668+33T>C
ENST00000463440.1:n.58+33T>C
ENST00000471344.1:n.645T>C
NM_000088.3:c.1668+33T>C , LRG_1t1:c.1668+33T>C	NP_000079.2:n.1668+33T>C
XM_005257058.3:c.1668+33T>C	XP_005257115.2:n.1668+33T>C
XM_005257059.3:c.958-1404T>C	XP_005257116.2:n.958-1404T>C
XM_011524341.1:c.1470+33T>C	XP_011522643.1:n.1470+33T>C
XM_005257058.4:c.1668+33T>C	XP_005257115.2:n.1668+33T>C
XM_005257059.4:c.958-1404T>C	XP_005257116.2:n.958-1404T>C
NM_000088.4:c.1668+33T>C MANE Select	NP_000079.2:n.1668+33T>C