Canonical Allele Identifier: CA291543022

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188151T>G , CM000679.2:g.50188151T>G	GRCh38
NC_000017.10:g.48265512T>G , CM000679.1:g.48265512T>G	GRCh37
NC_000017.9:g.45620511T>G	NCBI36
NG_007400.1:g.18489A>C , LRG_1:g.18489A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3208-2A>C MANE Select	NP_000079.2:n.3208-2A>C
ENST00000225964.10:c.3208-2A>C MANE Select	ENSP00000225964.6:n.3208-2A>C
NM_000088.3:c.3208-2A>C , LRG_1t1:c.3208-2A>C	NP_000079.2:n.3208-2A>C
ENST00000225964.9:c.3208-2A>C	ENSP00000225964.5:n.3208-2A>C
ENST00000486572.1:n.404A>C
ENST00000511732.1:n.530A>C
XM_005257058.3:c.2938-2A>C	XP_005257115.2:n.2938-2A>C
XM_005257058.4:c.2938-2A>C	XP_005257115.2:n.2938-2A>C
XM_005257059.3:c.2290-2A>C	XP_005257116.2:n.2290-2A>C
XM_005257059.4:c.2290-2A>C	XP_005257116.2:n.2290-2A>C
XM_011524341.1:c.3010-2A>C	XP_011522643.1:n.3010-2A>C