Canonical Allele Identifier: CA2638710172

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194105-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194105G>A , CM000679.2:g.50194105G>A	GRCh38
NC_000017.10:g.48271466G>A , CM000679.1:g.48271466G>A	GRCh37
NC_000017.9:g.45626465G>A	NCBI36
NG_007400.1:g.12535C>T , LRG_1:g.12535C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1668+25C>T MANE Select	ENSP00000225964.6:n.1668+25C>T
ENST00000225964.9:c.1668+25C>T	ENSP00000225964.5:n.1668+25C>T
ENST00000463440.1:n.58+25C>T
ENST00000471344.1:n.637C>T
NM_000088.3:c.1668+25C>T , LRG_1t1:c.1668+25C>T	NP_000079.2:n.1668+25C>T
XM_005257058.3:c.1668+25C>T	XP_005257115.2:n.1668+25C>T
XM_005257059.3:c.958-1412C>T	XP_005257116.2:n.958-1412C>T
XM_011524341.1:c.1470+25C>T	XP_011522643.1:n.1470+25C>T
XM_005257058.4:c.1668+25C>T	XP_005257115.2:n.1668+25C>T
XM_005257059.4:c.958-1412C>T	XP_005257116.2:n.958-1412C>T
NM_000088.4:c.1668+25C>T MANE Select	NP_000079.2:n.1668+25C>T