Canonical Allele Identifier: CA984450707

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907263325
• gnomAD v3: 17-50193302-C-A
• gnomAD v4: 17-50193302-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193302C>A , CM000679.2:g.50193302C>A	GRCh38
NC_000017.10:g.48270663C>A , CM000679.1:g.48270663C>A	GRCh37
NC_000017.9:g.45625662C>A	NCBI36
NG_007400.1:g.13338G>T , LRG_1:g.13338G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-255G>T MANE Select	ENSP00000225964.6:n.1768-255G>T
ENST00000225964.9:c.1768-255G>T	ENSP00000225964.5:n.1768-255G>T
ENST00000476387.1:n.117-255G>T
NM_000088.3:c.1768-255G>T , LRG_1t1:c.1768-255G>T	NP_000079.2:n.1768-255G>T
XM_005257058.3:c.1768-255G>T	XP_005257115.2:n.1768-255G>T
XM_005257059.3:c.958-609G>T	XP_005257116.2:n.958-609G>T
XM_011524341.1:c.1570-255G>T	XP_011522643.1:n.1570-255G>T
XM_005257058.4:c.1768-255G>T	XP_005257115.2:n.1768-255G>T
XM_005257059.4:c.958-609G>T	XP_005257116.2:n.958-609G>T
NM_000088.4:c.1768-255G>T MANE Select	NP_000079.2:n.1768-255G>T