Canonical Allele Identifier: CA984451018

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907302233
• gnomAD v3: 17-50193658-T-C
• gnomAD v4: 17-50193658-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193658T>C , CM000679.2:g.50193658T>C	GRCh38
NC_000017.10:g.48271019T>C , CM000679.1:g.48271019T>C	GRCh37
NC_000017.9:g.45626018T>C	NCBI36
NG_007400.1:g.12982A>G , LRG_1:g.12982A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+285A>G MANE Select	ENSP00000225964.6:n.1767+285A>G
ENST00000225964.9:c.1767+285A>G	ENSP00000225964.5:n.1767+285A>G
ENST00000463440.1:n.442A>G
ENST00000471344.1:n.1084A>G
ENST00000476387.1:n.116+285A>G
NM_000088.3:c.1767+285A>G , LRG_1t1:c.1767+285A>G	NP_000079.2:n.1767+285A>G
XM_005257058.3:c.1767+285A>G	XP_005257115.2:n.1767+285A>G
XM_005257059.3:c.958-965A>G	XP_005257116.2:n.958-965A>G
XM_011524341.1:c.1569+285A>G	XP_011522643.1:n.1569+285A>G
XM_005257058.4:c.1767+285A>G	XP_005257115.2:n.1767+285A>G
XM_005257059.4:c.958-965A>G	XP_005257116.2:n.958-965A>G
NM_000088.4:c.1767+285A>G MANE Select	NP_000079.2:n.1767+285A>G