Canonical Allele Identifier: CA2638704575

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185702-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185702G>T , CM000679.2:g.50185702G>T	GRCh38
NC_000017.10:g.48263063G>T , CM000679.1:g.48263063G>T	GRCh37
NC_000017.9:g.45618062G>T	NCBI36
NG_007400.1:g.20938C>A , LRG_1:g.20938C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4249-54C>A MANE Select	ENSP00000225964.6:n.4249-54C>A
ENST00000225964.9:c.4249-54C>A	ENSP00000225964.5:n.4249-54C>A
NM_000088.3:c.4249-54C>A , LRG_1t1:c.4249-54C>A	NP_000079.2:n.4249-54C>A
XM_005257058.3:c.3979-54C>A	XP_005257115.2:n.3979-54C>A
XM_005257059.3:c.3331-54C>A	XP_005257116.2:n.3331-54C>A
XM_011524341.1:c.4051-54C>A	XP_011522643.1:n.4051-54C>A
XM_005257058.4:c.3979-54C>A	XP_005257115.2:n.3979-54C>A
XM_005257059.4:c.3331-54C>A	XP_005257116.2:n.3331-54C>A
NM_000088.4:c.4249-54C>A MANE Select	NP_000079.2:n.4249-54C>A