Canonical Allele Identifier: CA984451110

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907322604
• gnomAD v3: 17-50193905-T-C
• gnomAD v4: 17-50193905-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193905T>C , CM000679.2:g.50193905T>C	GRCh38
NC_000017.10:g.48271266T>C , CM000679.1:g.48271266T>C	GRCh37
NC_000017.9:g.45626265T>C	NCBI36
NG_007400.1:g.12735A>G , LRG_1:g.12735A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+38A>G MANE Select	ENSP00000225964.6:n.1767+38A>G
ENST00000225964.9:c.1767+38A>G	ENSP00000225964.5:n.1767+38A>G
ENST00000463440.1:n.195A>G
ENST00000471344.1:n.837A>G
ENST00000476387.1:n.116+38A>G
NM_000088.3:c.1767+38A>G , LRG_1t1:c.1767+38A>G	NP_000079.2:n.1767+38A>G
XM_005257058.3:c.1767+38A>G	XP_005257115.2:n.1767+38A>G
XM_005257059.3:c.958-1212A>G	XP_005257116.2:n.958-1212A>G
XM_011524341.1:c.1569+38A>G	XP_011522643.1:n.1569+38A>G
XM_005257058.4:c.1767+38A>G	XP_005257115.2:n.1767+38A>G
XM_005257059.4:c.958-1212A>G	XP_005257116.2:n.958-1212A>G
NM_000088.4:c.1767+38A>G MANE Select	NP_000079.2:n.1767+38A>G