Canonical Allele Identifier: CA291550704

Gene: COL1A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199554A>G , CM000679.2:g.50199554A>G	GRCh38
NC_000017.10:g.48276915A>G , CM000679.1:g.48276915A>G	GRCh37
NC_000017.9:g.45631914A>G	NCBI36
NG_007400.1:g.7086T>C , LRG_1:g.7086T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.333+2T>C MANE Select	ENSP00000225964.6:n.333+2T>C
ENST00000225964.9:c.333+2T>C	ENSP00000225964.5:n.333+2T>C
ENST00000474644.1:n.454T>C
ENST00000507689.1:c.387+2T>C	ENSP00000460459.1:n.387+2T>C
NM_000088.3:c.333+2T>C , LRG_1t1:c.333+2T>C	NP_000079.2:n.333+2T>C
XM_005257058.3:c.333+2T>C	XP_005257115.2:n.333+2T>C
XM_005257059.3:c.333+2T>C	XP_005257116.2:n.333+2T>C
XM_011524341.1:c.333+2T>C	XP_011522643.1:n.333+2T>C
XM_005257058.4:c.333+2T>C	XP_005257115.2:n.333+2T>C
XM_005257059.4:c.333+2T>C	XP_005257116.2:n.333+2T>C
NM_000088.4:c.333+2T>C MANE Select	NP_000079.2:n.333+2T>C