Canonical Allele Identifier: CA2638709063

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188479-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188479G>A , CM000679.2:g.50188479G>A	GRCh38
NC_000017.10:g.48265840G>A , CM000679.1:g.48265840G>A	GRCh37
NC_000017.9:g.45620839G>A	NCBI36
NG_007400.1:g.18161C>T , LRG_1:g.18161C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+51C>T MANE Select	ENSP00000225964.6:n.3207+51C>T
ENST00000225964.9:c.3207+51C>T	ENSP00000225964.5:n.3207+51C>T
ENST00000486572.1:n.76C>T
ENST00000511732.1:n.202C>T
NM_000088.3:c.3207+51C>T , LRG_1t1:c.3207+51C>T	NP_000079.2:n.3207+51C>T
XM_005257058.3:c.2937+51C>T	XP_005257115.2:n.2937+51C>T
XM_005257059.3:c.2289+51C>T	XP_005257116.2:n.2289+51C>T
XM_011524341.1:c.3009+51C>T	XP_011522643.1:n.3009+51C>T
XM_005257058.4:c.2937+51C>T	XP_005257115.2:n.2937+51C>T
XM_005257059.4:c.2289+51C>T	XP_005257116.2:n.2289+51C>T
NM_000088.4:c.3207+51C>T MANE Select	NP_000079.2:n.3207+51C>T