Canonical Allele Identifier: CA400216268

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194348C>G , CM000679.2:g.50194348C>G	GRCh38
NC_000017.10:g.48271709C>G , CM000679.1:g.48271709C>G	GRCh37
NC_000017.9:g.45626708C>G	NCBI36
NG_007400.1:g.12292G>C , LRG_1:g.12292G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.1614+1G>C MANE Select	NP_000079.2:n.1614+1G>C
ENST00000225964.10:c.1614+1G>C MANE Select	ENSP00000225964.6:n.1614+1G>C
NM_000088.3:c.1614+1G>C , LRG_1t1:c.1614+1G>C	NP_000079.2:n.1614+1G>C
ENST00000225964.9:c.1614+1G>C	ENSP00000225964.5:n.1614+1G>C
ENST00000463440.1:n.4+1G>C
ENST00000471344.1:n.558+1G>C
XM_005257058.3:c.1614+1G>C	XP_005257115.2:n.1614+1G>C
XM_005257058.4:c.1614+1G>C	XP_005257115.2:n.1614+1G>C
XM_005257059.3:c.958-1655G>C	XP_005257116.2:n.958-1655G>C
XM_005257059.4:c.958-1655G>C	XP_005257116.2:n.958-1655G>C
XM_011524341.1:c.1416+1G>C	XP_011522643.1:n.1416+1G>C