Canonical Allele Identifier: CA400227771

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199555C>G , CM000679.2:g.50199555C>G	GRCh38
NC_000017.10:g.48276916C>G , CM000679.1:g.48276916C>G	GRCh37
NC_000017.9:g.45631915C>G	NCBI36
NG_007400.1:g.7085G>C , LRG_1:g.7085G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.333+1G>C MANE Select	NP_000079.2:n.333+1G>C
ENST00000225964.10:c.333+1G>C MANE Select	ENSP00000225964.6:n.333+1G>C
NM_000088.3:c.333+1G>C , LRG_1t1:c.333+1G>C	NP_000079.2:n.333+1G>C
ENST00000225964.9:c.333+1G>C	ENSP00000225964.5:n.333+1G>C
ENST00000474644.1:n.453G>C
ENST00000507689.1:c.387+1G>C	ENSP00000460459.1:n.387+1G>C
XM_005257058.3:c.333+1G>C	XP_005257115.2:n.333+1G>C
XM_005257058.4:c.333+1G>C	XP_005257115.2:n.333+1G>C
XM_005257059.3:c.333+1G>C	XP_005257116.2:n.333+1G>C
XM_005257059.4:c.333+1G>C	XP_005257116.2:n.333+1G>C
XM_011524341.1:c.333+1G>C	XP_011522643.1:n.333+1G>C