Canonical Allele Identifier: CA400191113

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185776A>G , CM000679.2:g.50185776A>G	GRCh38
NC_000017.10:g.48263137A>G , CM000679.1:g.48263137A>G	GRCh37
NC_000017.9:g.45618136A>G	NCBI36
NG_007400.1:g.20864T>C , LRG_1:g.20864T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.4248+2T>C MANE Select	NP_000079.2:n.4248+2T>C
ENST00000225964.10:c.4248+2T>C MANE Select	ENSP00000225964.6:n.4248+2T>C
NM_000088.3:c.4248+2T>C , LRG_1t1:c.4248+2T>C	NP_000079.2:n.4248+2T>C
ENST00000225964.9:c.4248+2T>C	ENSP00000225964.5:n.4248+2T>C
XM_005257058.3:c.3978+2T>C	XP_005257115.2:n.3978+2T>C
XM_005257058.4:c.3978+2T>C	XP_005257115.2:n.3978+2T>C
XM_005257059.3:c.3330+2T>C	XP_005257116.2:n.3330+2T>C
XM_005257059.4:c.3330+2T>C	XP_005257116.2:n.3330+2T>C
XM_011524341.1:c.4050+2T>C	XP_011522643.1:n.4050+2T>C