Canonical Allele Identifier: CA2550029551

Gene: COL1A1

Linked Data

• gnomAD v3: 17-50194098-A-C
• gnomAD v4: 17-50194098-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194098A>C , CM000679.2:g.50194098A>C	GRCh38
NC_000017.10:g.48271459A>C , CM000679.1:g.48271459A>C	GRCh37
NC_000017.9:g.45626458A>C	NCBI36
NG_007400.1:g.12542T>G , LRG_1:g.12542T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1668+32T>G MANE Select	ENSP00000225964.6:n.1668+32T>G
ENST00000225964.9:c.1668+32T>G	ENSP00000225964.5:n.1668+32T>G
ENST00000463440.1:n.58+32T>G
ENST00000471344.1:n.644T>G
NM_000088.3:c.1668+32T>G , LRG_1t1:c.1668+32T>G	NP_000079.2:n.1668+32T>G
XM_005257058.3:c.1668+32T>G	XP_005257115.2:n.1668+32T>G
XM_005257059.3:c.958-1405T>G	XP_005257116.2:n.958-1405T>G
XM_011524341.1:c.1470+32T>G	XP_011522643.1:n.1470+32T>G
XM_005257058.4:c.1668+32T>G	XP_005257115.2:n.1668+32T>G
XM_005257059.4:c.958-1405T>G	XP_005257116.2:n.958-1405T>G
NM_000088.4:c.1668+32T>G MANE Select	NP_000079.2:n.1668+32T>G