Canonical Allele Identifier: CA8645389
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50195590G>C
GRCh37 chr17:g.48272951G>C
Revel Score:
ENST00000225964 (MANE Select) 0.385
gnomAD v2:
17:48272951 G / C
gnomAD v3:
17:50195590 G / C
gnomAD v4:
chr17-50195590-G-C
Joint Max Group AF 0.00143213 (AMR)
Genomes Max Group AF 0.0027232 (AMR)
Exomes Max Group AF 0.00085092 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195590G>C , CM000679.2:g.50195590G>C GRCh38
NC_000017.10:g.48272951G>C , CM000679.1:g.48272951G>C GRCh37
NC_000017.9:g.45627950G>C NCBI36
NG_007400.1:g.11050C>G , LRG_1:g.11050C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1132C>G MANE Select ENSP00000225964.6:p.Pro378Ala
ENST00000225964.9:c.1132C>G ENSP00000225964.5:p.Pro378Ala
ENST00000471344.1:n.76C>G
NM_000088.3:c.1132C>G , LRG_1t1:c.1132C>G NP_000079.2:p.Pro378Ala
XM_005257058.3:c.1132C>G XP_005257115.2:p.Pro378Ala
XM_005257059.3:c.957+724C>G XP_005257116.2:n.957+724C>G
XM_011524341.1:c.958-112C>G XP_011522643.1:n.958-112C>G
XM_005257058.4:c.1132C>G XP_005257115.2:p.Pro378Ala
XM_005257059.4:c.957+724C>G XP_005257116.2:n.957+724C>G
NM_000088.4:c.1132C>G MANE Select NP_000079.2:p.Pro378Ala
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