Canonical Allele Identifier: CA984451195

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907344911
• gnomAD v3: 17-50194110-T-A
• gnomAD v4: 17-50194110-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194110T>A , CM000679.2:g.50194110T>A	GRCh38
NC_000017.10:g.48271471T>A , CM000679.1:g.48271471T>A	GRCh37
NC_000017.9:g.45626470T>A	NCBI36
NG_007400.1:g.12530A>T , LRG_1:g.12530A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1668+20A>T MANE Select	ENSP00000225964.6:n.1668+20A>T
ENST00000225964.9:c.1668+20A>T	ENSP00000225964.5:n.1668+20A>T
ENST00000463440.1:n.58+20A>T
ENST00000471344.1:n.632A>T
NM_000088.3:c.1668+20A>T , LRG_1t1:c.1668+20A>T	NP_000079.2:n.1668+20A>T
XM_005257058.3:c.1668+20A>T	XP_005257115.2:n.1668+20A>T
XM_005257059.3:c.958-1417A>T	XP_005257116.2:n.958-1417A>T
XM_011524341.1:c.1470+20A>T	XP_011522643.1:n.1470+20A>T
XM_005257058.4:c.1668+20A>T	XP_005257115.2:n.1668+20A>T
XM_005257059.4:c.958-1417A>T	XP_005257116.2:n.958-1417A>T
NM_000088.4:c.1668+20A>T MANE Select	NP_000079.2:n.1668+20A>T