Canonical Allele Identifier: CA2638709065

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188482-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188482G>A , CM000679.2:g.50188482G>A	GRCh38
NC_000017.10:g.48265843G>A , CM000679.1:g.48265843G>A	GRCh37
NC_000017.9:g.45620842G>A	NCBI36
NG_007400.1:g.18158C>T , LRG_1:g.18158C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+48C>T MANE Select	ENSP00000225964.6:n.3207+48C>T
ENST00000225964.9:c.3207+48C>T	ENSP00000225964.5:n.3207+48C>T
ENST00000486572.1:n.73C>T
ENST00000511732.1:n.199C>T
NM_000088.3:c.3207+48C>T , LRG_1t1:c.3207+48C>T	NP_000079.2:n.3207+48C>T
XM_005257058.3:c.2937+48C>T	XP_005257115.2:n.2937+48C>T
XM_005257059.3:c.2289+48C>T	XP_005257116.2:n.2289+48C>T
XM_011524341.1:c.3009+48C>T	XP_011522643.1:n.3009+48C>T
XM_005257058.4:c.2937+48C>T	XP_005257115.2:n.2937+48C>T
XM_005257059.4:c.2289+48C>T	XP_005257116.2:n.2289+48C>T
NM_000088.4:c.3207+48C>T MANE Select	NP_000079.2:n.3207+48C>T